Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesti...

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Detalles Bibliográficos
Autores principales: Hammer, Michael F., Ishii, Atsushi, Johnstone, Laurel, Tchourbanov, Alexander, Lau, Branden, Sprissler, Ryan, Hallmark, Brian, Zhang, Miao, Zhou, Jin, Watkins, Joseph, Hirose, Shinichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501540/
https://www.ncbi.nlm.nih.gov/pubmed/28686619
http://dx.doi.org/10.1371/journal.pone.0180485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501540/
https://www.ncbi.nlm.nih.gov/pubmed/28686619
http://dx.doi.org/10.1371/journal.pone.0180485

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