Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

Katherine L HelbigKelly D Farwell HagmanDeepali N ShindeCameron MroskeZöe PowisShuwei LiSha TangIngo Helbig

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

DES with analysis and interpretation of both characterized and novel genetic etiologies is a useful diagnostic tool in epilepsy, particularly in severe early-onset epilepsy. The reporting on novel genetic etiologies may further increase the diagnostic yield.Genet Med 18 9, 898-905.

Keyphrases

early onset
late onset
copy number
genome wide
gene expression
dna methylation
adverse drug