High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

ABSTRACT: Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to docum

SUBMITTER: Hamdan FF 

PROVIDER: S-EPMC5673604 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature