Article
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.
Proceedings of the National Academy of Sciences of the United States of America - 21 Aug 2018
Richards Kay L, Milligan Carol J, Richardson Robert J, Jancovski Nikola, Grunnet Morten, Jacobson Laura H, Undheim Eivind A B, Mobli Mehdi, Chow Chun Yuen, Herzig Volker, Csoti Agota, Panyi Gyorgy, Reid Christopher A, King Glenn F, Petrou Steven
Abstract excerpt
Dravet syndrome is a catastrophic, pharmacoresistant epileptic encephalopathy. Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death. The majority of affected individuals harbor a loss-of-function mutation in one allele of SCN1A, which encodes the voltage-gated sodium channel NaV1.1. Brain NaV1.1...
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