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Article

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Epilepsia - 1 Jan 2016

Allen Nicholas M, Conroy Judith, Shahwan Amre, Lynch Bryan, Correa Raony G, Pena Sergio D J, McCreary Dara, Magalhães Tiago R, Ennis Sean, Lynch Sally A, King Mary D

Abstract excerpt

Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an increasing number of responsible single genes as well as emerging diagnostic strategies. In this single-center study, we aimed to investigate a cohort of children with unexplained EOEE. We performed whole-exome sequencing (WES), targeting a list of 137...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26648591
DOI: 10.1111/epi.13250

Genes

CPA6
DNM1
GRIA3
KCNA2
KCNB1
KCNT1
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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