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ResearchIn-Press PreviewGeneticsNeuroscience
Open Access | 
10.1172/JCI186119
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly
Lei Ji,1 Jin Yan,2 Nicole A. Losurdo,3 Hua Wang,4 Liangjie Liu,1 Keyi Li,1 Zhen Liu,5 Zhenming Guo,2 Jing Xu,2 Adriana Bibo,3 Decheng Ren,1 Ke Yang,1 Yingying Luo,1 Fengping Yang,1 Gui Wang,2 Zhenglong Xiang,2 Yuan Wang,2 Huaizhe Zhan,2 Hu Pan,5 Juanli Hu,5 Jianmin Zhong,6 Rami Abou Jamra,7 Pia Zacher,8 Luciana Musante,9 Flavio Faletra,10 Paola Costa,9 Caterina Zanus,9 Nathalie Couque,11 Lyse Ruaud,11 Anna Maria Cueto-González,12 Hector San Nicolas Fernández,12 Eduardo Tizzano,12 Núria Martínez Gil,12 Xiaorong Liu,13 Weiping Liao,13 Layal Abi Farraj,14 Alden Y. Huang,14 Liying Zhang,14 Aparna Murali,15 Esther Schmuel,16 Christina S. Han,15 Kayla King,17 Weiyue Gu,18 Pengchao Wang,18 Kai Li,19 Nichole Link,3 Guang He,1 Shan Bian,2 and Xiao Mao5
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Ji, L. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Yan, J. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Losurdo, N. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Wang, H. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Liu, L. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Li, K. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Liu, Z. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Guo, Z. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Xu, J. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Bibo, A. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Ren, D. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Yang, K. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Luo, Y. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Yang, F. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Wang, G. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Xiang, Z. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Wang, Y. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Zhan, H. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Pan, H. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Hu, J. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Zhong, J. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Abou Jamra, R. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Zacher, P. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Musante, L. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Faletra, F. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Costa, P. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Zanus, C. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Couque, N. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
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1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Cueto-González, A. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by San Nicolas Fernández, H. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Tizzano, E. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Martínez Gil, N. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Liu, X. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Liao, W. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Abi Farraj, L. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Huang, A. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Zhang, L. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Murali, A. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Schmuel, E. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Han, C. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by King, K. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Gu, W. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Wang, P. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Li, K. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Link, N. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
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1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Bian, S. in: PubMed | Google Scholar
1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neur, Shanghai Jiao Tong University, Shanghai, China
2Institute for Regenerative Medicine, State Key Laboratory of Cardiology and, Shanghai East Hospital, Frontier Science Center for Stem Cell Research School of Life Sciences and Technology, Tongji University, Shanghai, China
3Department of Neurobiology, University of Utah, Salt Lake City, United States of America
4The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, China
5Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
6Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China
7Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
8Kleinwachau Epilepsy Center, Radeberg, Germany
9Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
10Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy
11Department of Genetics, APHP-Robert Debré University Hospital, Paris, France
12Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
13Department of Neurology, Institute of Neuroscience, Key Laboratory of Neuro, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China
14Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
15Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, United States of America
16Comprehensive Materna Fetal Medicine Center, Thousand Oaks, United States of America
17Department of Human and Molecular Genetics, VCU Health School of Medicine, Richmond, United States of America
18Chigene (Beijing) Translational Medical Research Center Co. Ltd, Beijing, China
19Department of Neurology and Suzhou Clinical Research Center of Neurological, The Second Affiliated Hospital of Soochow University, Suzhou, China
Find articles by Mao, X. in: PubMed | Google Scholar
Published July 3, 2025 - More info
Copyright © 2025, Ji et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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