A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A, encoding voltage-gated sodium channel Na(v)1.1 α subunits. Sodium channels are modulated by β1 subunits, encoded by SCN1B, a g...

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Detalhes bibliográficos
Main Authors: Patino, Gustavo A., Claes, Lieve R. F., Lopez-Santiago, Luis F., Slat, Emily A., Dondeti, Raja S. R., Chen, Chunling, O'Malley, Heather A., Gray, Charles B. B., Miyazaki, Haruko, Nukina, Nobuyuki, Oyama, Fumitaka, De Jonghe, Peter, Isom, Lori L.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2749953/
https://ncbi.nlm.nih.gov/pubmed/19710327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2475-09.2009
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