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Title: Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
Austin Authors: Bagnall, Richard D;Crompton, Douglas E;Cutmore, Carina;Regan, Brigid M;Berkovic, Samuel F ;Scheffer, Ingrid E ;Semsarian, Christopher
Affiliation: From the Agnes Ginges Centre for Molecular Cardiology (R.D.B., C.C., C.S.), Centenary Institute, Sydney; Sydney Medical School (R.D.B., C.S.), University of Sydney; Neurology Department (D.E.C., B.M.R.), Northern Health, Melbourne; Epilepsy Research Centre (D.E.C., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne; Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne; and Department of Cardiology (C.S.), Royal Prince Alfred Hospital, Sydney, Australia
Issue Date: 1-Aug-2014
Publication information: Neurology 2014; 83(11): 1018-21
Abstract: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP).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.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.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.
Gov't Doc #: 25085640
DOI: 10.1212/WNL.0000000000000781
Journal: Neurology
Type: Journal Article
Subjects: Adolescent
Aged, 80 and over
Death, Sudden
Genetic Predisposition to Disease
Homeodomain Proteins.genetics
Middle Aged
Repetitive Sequences, Nucleic Acid
Risk Factors
Sequence Analysis, DNA
Sequence Deletion
Transcription Factors.genetics
Young Adult
Appears in Collections:Journal articles

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