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Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
Bagnall, Richard D; Crompton, Douglas E; Cutmore, Carina; Regan, Brigid M; Berkovic, Samuel F; Scheffer, Ingrid E; Semsarian, Christopher.
Affiliation
  • Bagnall RD; 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 Med
  • Crompton DE; 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 Med
  • Cutmore C; 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 Med
  • Regan BM; 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 Med
  • Berkovic SF; 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 Med
  • Scheffer IE; 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 Med
  • Semsarian C; 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 Med
Neurology ; 83(11): 1018-21, 2014 Sep 09.
Article in En | MEDLINE | ID: mdl-25085640
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Homeodomain Proteins / Death, Sudden / Epilepsy Type of study: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Country/Region as subject: Oceania Language: En Journal: Neurology Year: 2014 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Homeodomain Proteins / Death, Sudden / Epilepsy Type of study: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Country/Region as subject: Oceania Language: En Journal: Neurology Year: 2014 Document type: Article