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

ABSTRACT:

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 variants associated with chronic progressive or episodic ataxia. Electrophysiological characterizations of these variants were performed in ND7/23 cells and cultured neurons.

Findings

Variants associated with chronic progressive ataxia either decreased Na⁺ current densities and shifted activation curves towards more depolarized potentials (p.Asn995A

SUBMITTER: Lyu H 

PROVIDER: S-EPMC10628346 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature