In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

Mutations in the SCN1A gene, which encodes for the voltage-gated sodium channel Na(V)1.1, cause Dravet syndrome, a severe developmental and epileptic encephalopathy. Genetic testing of this gene is recommended early in life. However, predicting the outcome of de novo missense SCN1A mutations is diff...

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Detalles Bibliográficos
Autores principales: Nissenkorn, Andreea, Almog, Yael, Adler, Inbar, Safrin, Mary, Brusel, Marina, Marom, Milit, Bercovich, Shayel, Yakubovich, Daniel, Tzadok, Michal, Ben-Zeev, Bruria, Rubinstein, Moran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368302/
https://www.ncbi.nlm.nih.gov/pubmed/30735520
http://dx.doi.org/10.1371/journal.pone.0211901

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368302/
https://www.ncbi.nlm.nih.gov/pubmed/30735520
http://dx.doi.org/10.1371/journal.pone.0211901

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