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Article

Deciphering the Natural History of SCN8A-Related Disorders.

Neurology - 13 May 2025

Magielski Jan H, Cohen Stacey, Kaufman Michael C, Parthasarathy Shridhar, Xian Julie, Brimble Elise, Fitter Nasha, Furia Francesca, Gardella Elena, Møller Rikke Steensbjerre, Helbig Ingo, McKee Jillian L

Abstract excerpt

BACKGROUND AND OBJECTIVES: SCN8A-related disorders encompass a range of neurodevelopmental and epilepsy phenotypes. However, despite representing one of the most common epilepsy-associated channelopathies, its longitudinal phenotypes remain largely uncharacterized. METHODS: In this study, we harmonized electronic medical record data from 82 individuals with SCN8A-related disorders to reconstruct the natural...

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Identifiers

PMID: 40228184
DOI: 10.1212/WNL.0000000000213533
PMCID: PMC11998016

Genes

SCN8A

Variants

Provenance

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