Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

G. F. de Kovel, Carolien; H. Brilstra, Eva; J. A. van Kempen, Marjan; van’t Slot, Ruben; J. Nijman, Isaäc; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna‐Elina; R. Lemke, Johannes; Marini, Carla; Mei, Davide; S. Møller, Rikke; Pendziwiat, Manuela; Stamberger, Hannah; Suls, Arvid; Weckhuysen, Sarah; P.C. Koeleman, Bobby

doi:10.1002/mgg3.235

Public

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Published in Molecular Genetics & Genomic Medicine • Jul 30, 2016

Authors:

Carolien G. F. de Kovel

Eva H. Brilstra

Marjan J. A. van Kempen

Abstract

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. METHODS: To increase the number of validated EE gene...

Subject

Cohort

Epilepsy

Candidate gene

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