Article
Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
International journal of molecular sciences - 1 Feb 2024
Witkowski Grzegorz, Szulczyk Bartlomiej, Nurowska Ewa, Jurek Marta, Pasierski Michal, Lipiec Agata, Charzewska Agnieszka, Dawidziuk Mateusz, Milewski Michal, Owsiak Szymon, Rola Rafal, Sienkiewicz Jarosz Halina, Hoffman-Zacharska Dorota
Abstract excerpt
Mutations of the SCN1A gene, which encodes the voltage-dependent Na+ channel's α subunit, are associated with diverse epileptic syndromes ranging in severity, even intra-family, from febrile seizures to epileptic encephalopathy. The underlying cause of this variability is unknown, suggesting the involvement of additional factors. The aim of our study was to describe the properties of mutated channels and...
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