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Article

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

28 Oct 2023

Abstract excerpt

Background Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom of SCN8A variation has not been well studied. We set out to investigate disease mechanisms and genotype–phenotype correlations of SCN8A -related ataxia. Methods We collected genetic and electro-clinical data of ten individuals from nine unrelated families carrying novel SCN8A...

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PMID: 38251463
DOI: 10.1016/j.ebiom.2023.104855

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