Krisztina Galimurka

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

Abstract Epilepsy represents a highly prevalent neurological disorder with a significant genetic component, particularly implicating ion channel genes, including SCN1A . In this study, 431 individuals with heterogeneous paediatric-onset epilepsy phenotypes were assessed at the De...