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 using a fluorescent sizing assay. Two synonymous variants were identified in 4 cases, but no PHOX2B polyalanine repeat expansion alleles or point mutations were found. CONCLUSIONS:The absence of PHOX2B polyalanine repeat expansion alleles or point mutations in 68 Australian cases of SUDEP, with one deletion of uncertain significance, shows that PHOX2B mutations are not a common risk factor for SUDEP.
journal_name
Neurologyjournal_title
Neurologyauthors
Bagnall RD,Crompton DE,Cutmore C,Regan BM,Berkovic SF,Scheffer IE,Semsarian Cdoi
10.1212/WNL.0000000000000781subject
Has Abstractpub_date
2014-09-09 00:00:00pages
1018-21issue
11eissn
0028-3878issn
1526-632Xpii
WNL.0000000000000781journal_volume
83pub_type
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