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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2016

Helbig Katherine L, Farwell Hagman Kelly D, Shinde Deepali N, Mroske Cameron, Powis Zöe, Li Shuwei, Tang Sha, Helbig Ingo

Abstract excerpt

PURPOSE: To assess the yield of diagnostic exome sequencing (DES) and to characterize the molecular findings in characterized and novel disease genes in patients with epilepsy. METHODS: In an unselected sample of 1,131 patients referred for DES, overall results were compared between patients with and without epilepsy. DES results were examined based on age of onset and epilepsy diagnosis. RESULTS: Positive/likely...

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Source

Identifiers

PMID: 26795593
DOI: 10.1038/gim.2015.186

Genes

DES
COQ4
DNM1
FOXG1
IQSEC2
KCNQ2
MECP2
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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