Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel β1-subunit, SCN1B. A second locus on chromosome 2q, GEF...

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Autors principals: Wallace, R. H., Scheffer, I. E., Barnett, S., Richards, M., Dibbens, L., Desai, R. R., Lerman-Sagie, T., Lev, D., Mazarib, A., Brand, N., Ben-Zeev, B., Goikhman, I., Singh, R., Kremmidiotis, G., Gardner, A., Sutherland, G. R., Jr., A. L. George, Mulley, J. C., Berkovic, S. F.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2001
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275639/
https://ncbi.nlm.nih.gov/pubmed/11254444
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