Articles with "scn8a related" as a keyword



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C-70 Neuropsychological Profiles of Patients With SCN8A-Related Epilepsy

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Published in 2019 at "Archives of Clinical Neuropsychology"

DOI: 10.1093/arclin/acz034.232

Abstract: Two cases of SCN8A-related epilepsy (a sodium-channelopathy) are presented. SCN8A-related epilepsy with encephalopathy (SCN8A-REE), the most common form, is typically characterized by refractory seizures, developmental delays, and intellectual disability (ID) but recently discovered variants have… read more here.

Keywords: related epilepsy; scn8a related; case; motor ... See more keywords