Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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