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Article

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Journal of medical genetics - 1 May 2016

Trump Natalie, McTague Amy, Brittain Helen, Papandreou Apostolos, Meyer Esther, Ngoh Adeline, Palmer Rodger, Morrogh Deborah, Boustred Christopher, Hurst Jane A, Jenkins Lucy, Kurian Manju A, Scott Richard H

Abstract excerpt

BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS: In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26993267
DOI: 10.1136/jmedgenet-2015-103263
PMCID: PMC4862068

Genes

CDKL5
EHMT1
FOXG1
GABRB3
KCNQ2
KCNT1
LGI1
MBD5
MECP2
PCDH19
PIGA
PRRT2
STXBP1
TCF4
ZEB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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