Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
- Bagnall, RD
- Crompton, DE
- Petrovski, S
- Lam, L
- Cutmore, C
- Garry, SI
- Sadleir, LG
- Dibbens, LM
- Cairns, A
- Kivity, S
- Afawi, Z
- Regan, BM
- Duflou, J
- Berkovic, SF
- Scheffer, IE
- Semsarian, C
DOIAbstract
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 exomes were performed to test for genes enriched with damaging variants. Additionally, cardiac arrhythmia, respiratory control, and epilepsy genes were screened for variants with frequency of <0.1% and predicted to be pathogenic with multiple in silico tools. RESULTS: The 61 SUDEP cases were categorized as definite SUDEP (n = 54), proba...
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