Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Richard D Bagnall; Douglas E Crompton; Carina Cutmore; Brigid M Regan; Samuel F Berkovic; Ingrid E Scheffer; Christopher Semsarian

Journal article

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Richard D Bagnall, Douglas E Crompton, Carina Cutmore, Brigid M Regan, Samuel F Berkovic, Ingrid E Scheffer, Christopher 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

Ingrid Scheffer Author Medicine - Austin Health

Douglas Crompton Author Medical Education

Sam Berkovic Author Medicine - Austin Health

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Grants

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

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).