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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Autores principales: Mulley, John C., Iona, Xenia, Hodgson, Bree, Heron, Sarah E., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139179/
https://www.ncbi.nlm.nih.gov/pubmed/21785725
http://dx.doi.org/10.1155/2011/917565
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author Mulley, John C.
Iona, Xenia
Hodgson, Bree
Heron, Sarah E.
Berkovic, Samuel F.
Scheffer, Ingrid E.
Dibbens, Leanne M.
author_facet Mulley, John C.
Iona, Xenia
Hodgson, Bree
Heron, Sarah E.
Berkovic, Samuel F.
Scheffer, Ingrid E.
Dibbens, Leanne M.
author_sort Mulley, John C.
collection PubMed
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.
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spelling pubmed-31391792011-07-22 The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures Mulley, John C. Iona, Xenia Hodgson, Bree Heron, Sarah E. Berkovic, Samuel F. Scheffer, Ingrid E. Dibbens, Leanne M. Neurol Res Int Research Article 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. Hindawi Publishing Corporation 2011 2011-07-16 /pmc/articles/PMC3139179/ /pubmed/21785725 http://dx.doi.org/10.1155/2011/917565 Text en Copyright © 2011 John C. Mulley et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Mulley, John C.
Iona, Xenia
Hodgson, Bree
Heron, Sarah E.
Berkovic, Samuel F.
Scheffer, Ingrid E.
Dibbens, Leanne M.
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
title 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_short 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
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139179/
https://www.ncbi.nlm.nih.gov/pubmed/21785725
http://dx.doi.org/10.1155/2011/917565
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