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
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..View full abstract
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Awarded by National Health and Medical Research Council (NHMRC)
Awarded by NHMRC
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).