Cyclin-dependent kinase-like 5 deficiency disorder: clinical review
HE Olson, ST Demarest, EM Pestana-Knight… - Pediatric …, 2019 - Elsevier
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This
unique disorder includes early infantile onset refractory epilepsy, hypotonia, developmental
intellectual and motor disabilities, and cortical visual impairment. We review the clinical
presentations and genetic variations in CDD based on a systematic literature review and
experience in the CDKL5 Centers of Excellence. We propose minimum diagnostic criteria …
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This
unique disorder includes early infantile onset refractory epilepsy, hypotonia, developmental
intellectual and motor disabilities, and cortical visual impairment. We review the clinical
presentations and genetic variations in CDD based on a systematic literature review and
experience in the CDKL5 Centers of Excellence. We propose minimum diagnostic criteria …