Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Francesca M Snoeijen-SchouwenaarsJans S van OolJudith S VerhoevenPetra van MierloHilde M H BraakmanEric E SmeetsJoost NicolaiJeroen SchootsMariel W A TeunissenRob P W RouhlIn Y TanHelger G YntemaHan G BrunnerRolph PfundtAlexander P StegmannErik-Jan KamsteegHelenius J SchelhaasMarjolein H WillemsenPublished in: Epilepsia (2018)
This study illustrates the clinical diagnostic relevance of WES for patients with both epilepsy and ID. It also demonstrates that implementing WES diagnostics might have impact on the (antiepileptic) treatment strategy in this population. Confirmation of variants of uncertain significance in (candidate) genes may further increase the yield.