Publication: Gene variant effects across sodium channelopathies predict function and guide precision therapy
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Abstract
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac a...
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Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E, Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S. Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain. 2022 Dec 19;145(12):4275-4286. doi: 10.1093/brain/awac006
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