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



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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