[HTML][HTML] TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
Purpose To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants
with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods
Infants were enrolled at age< 4 months, and subject to intensive clinical monitoring including
electroencephalography (EEG), brain magnetic resonance imaging (MRI), and
neuropsychological assessment. Targeted massively parallel sequencing (MPS), genome
sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used for …
with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods
Infants were enrolled at age< 4 months, and subject to intensive clinical monitoring including
electroencephalography (EEG), brain magnetic resonance imaging (MRI), and
neuropsychological assessment. Targeted massively parallel sequencing (MPS), genome
sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used for …