A deleterious Na(v)1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Na(v)1.1. Earlier studies using human induced pluripotent stem cells (iPSCs) have produced mixed results regarding the importance of Na(v)1.1 in huma...

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Detalles Bibliográficos
Autores principales: Sun, Yishan, Paşca, Sergiu P, Portmann, Thomas, Goold, Carleton, Worringer, Kathleen A, Guan, Wendy, Chan, Karen C, Gai, Hui, Vogt, Daniel, Chen, Ying-Jiun J, Mao, Rong, Chan, Karrie, Rubenstein, John LR, Madison, Daniel V, Hallmayer, Joachim, Froehlich-Santino, Wendy M, Bernstein, Jonathan A, Dolmetsch, Ricardo E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961470/
https://www.ncbi.nlm.nih.gov/pubmed/27458797
http://dx.doi.org/10.7554/eLife.13073

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