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Article

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Annals of neurology - 1 Apr 2016

Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christopher

Abstract excerpt

OBJECTIVE: The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic risk factors in SUDEP cases, we performed an exome-based analysis of rare variants. METHODS: Demographic and clinical information of 61 SUDEP cases were collected. Exome sequencing and rare variant collapsing analysis with 2,936 control...

Read the complete abstract on PubMed

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Share to Arrhythmias, Cardiac
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26704558
DOI: 10.1002/ana.24596

Genes

DEPDC5
KCNH2

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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