The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls. We found genetic variation in SEZ6 at similar lev...

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Main Authors: John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens
Format: Article
Language:English
Published: Hindawi Limited 2011-01-01
Series:Neurology Research International
Online Access:http://dx.doi.org/10.1155/2011/917565
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spelling doaj-3e75530423454e98be0884af7a0bfb102020-11-25T00:12:30ZengHindawi LimitedNeurology Research International2090-18522090-18602011-01-01201110.1155/2011/917565917565The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile SeizuresJohn C. Mulley0Xenia Iona1Bree Hodgson2Sarah E. Heron3Samuel F. Berkovic4Ingrid E. Scheffer5Leanne M. Dibbens6Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, AustraliaSchool of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA 5000, AustraliaSchool of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA 5000, AustraliaSchool of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA 5000, AustraliaEpilepsy Research Centre, University of Melbourne (Austin Health), West Heidelberg, VIC 3081, AustraliaEpilepsy Research Centre, University of Melbourne (Austin Health), West Heidelberg, VIC 3081, AustraliaSchool of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA 5000, AustraliaSixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls. We found genetic variation in SEZ6 at similar levels at the same DNA sequence positions in our 94 febrile seizure cases as in our 96 unaffected controls. Two of our febrile seizure cases carried rare variants predicted to have damaging consequences. Combined with some of the variants from the Chinese cohort, these data are compatible with a role for SEZ6 as a susceptibility gene for febrile seizures. However, the polygenic determinants underlying most cases of febrile seizures with complex inheritance remain to be determined.http://dx.doi.org/10.1155/2011/917565
collection DOAJ
language English
format Article
sources DOAJ
author John C. Mulley
Xenia Iona
Bree Hodgson
Sarah E. Heron
Samuel F. Berkovic
Ingrid E. Scheffer
Leanne M. Dibbens
spellingShingle John C. Mulley
Xenia Iona
Bree Hodgson
Sarah E. Heron
Samuel F. Berkovic
Ingrid E. Scheffer
Leanne M. Dibbens
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
Neurology Research International
author_facet John C. Mulley
Xenia Iona
Bree Hodgson
Sarah E. Heron
Samuel F. Berkovic
Ingrid E. Scheffer
Leanne M. Dibbens
author_sort John C. Mulley
title The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title_short The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title_full The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title_fullStr The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title_full_unstemmed The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title_sort role of seizure-related sez6 as a susceptibility gene in febrile seizures
publisher Hindawi Limited
series Neurology Research International
issn 2090-1852
2090-1860
publishDate 2011-01-01
description Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls. We found genetic variation in SEZ6 at similar levels at the same DNA sequence positions in our 94 febrile seizure cases as in our 96 unaffected controls. Two of our febrile seizure cases carried rare variants predicted to have damaging consequences. Combined with some of the variants from the Chinese cohort, these data are compatible with a role for SEZ6 as a susceptibility gene for febrile seizures. However, the polygenic determinants underlying most cases of febrile seizures with complex inheritance remain to be determined.
url http://dx.doi.org/10.1155/2011/917565
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