Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

ABSTRACT: Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy. Methods: Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and Ukrainian patients with suspected monogenic epilepsy. Diagnostic yields were presented for five phenotypic subgroups, distinguished by seizure type, electroencephalographic abnormalities, anti-seizure treatment response, and neurodevelopmental deficits. Results: A definite molecular diagnosis was established in 46 out of 127 cases (36%). Alterations in six genes were d

SUBMITTER: Krygier M 

PROVIDER: S-EPMC10796783 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature