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

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 NaV1.1, 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 diffic...

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Bibliographic Details
Main Authors: Andreea Nissenkorn, Yael Almog, Inbar Adler, Mary Safrin, Marina Brusel, Milit Marom, Shayel Bercovich, Daniel Yakubovich, Michal Tzadok, Bruria Ben-Zeev, Moran Rubinstein
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0211901

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