Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
Abstract
PurposeWe aimed to gain insight into frequencies of genetic variants in genes implicated in neurodevelopmental disorder with epilepsy (NDD+E) by investigating large cohorts of patients in a diagnostic setting.MethodsWe analyzed variants in NDD+E using epilepsy gene panel sequencing performed between 2013 and 2017 by two large diagnostic companies. We compared variant frequencies in 6994 panels with another 8588 recently published panels as well...
Paper Details
Title
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
Published Date
Nov 1, 2019
Journal
Volume
21
Issue
11
Pages
2496 - 2503
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