Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

RD Bagnall; DE Crompton; C Cutmore; BM Regan; SF Berkovic; IE Scheffer; C Semsarian

Journal article

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

RD Bagnall, DE Crompton, C Cutmore, BM Regan, SF Berkovic, IE Scheffer, C Semsarian

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2014

DOI: 10.1212/WNL.0000000000000781

Abstract

Objective: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP). Methods: Patients who died of SUDEP were identified in 2 major Australian cohorts, the Epilepsy Genetics research program in Melbourne and postmortem cases at the Department of Forensic Medicine in Sydney. Coding exons of the PHOX2B gene were sequenced and a fluorescent sizing assay was used to measure the PHOX2B polyalanine repeat sequence. Results: Sequencing of 68 cases of SUDEP identified a 15-nucleotide deletion in the PHOX2B polyalanine repeat region in one case, a 16-year-old adolescent with focal dyscognitive seizures from age 5 years. This deletion was verified u..

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University of Melbourne Researchers

Douglas Crompton Author

Sam Berkovic Author

Ingrid Scheffer Author

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Grants

Funding Acknowledgements

C. S. and I. E. S. are the recipients of National Health and Medical Research Council (NHMRC) Practitioner Fellowships (# 1059156 and # 1006110). This work is supported by project grants from NHMRC (# 1046441) and CURE, and NHMRC program grant (# 628952).