Associated Papers
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity.
Ji J et al.
Gene, 2025
Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.
Zhang G et al.
Frontiers in Neuroscience, 2025
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.
Wang JY et al.
Frontiers in Molecular Neuroscience, 2022
Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.
Zhou X et al.
Epilepsy Research, 2021
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