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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Detalles Bibliográficos
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
Descripción
Sumario: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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