Article

Clinical and electrophysiological features of<i>SCN8A</i>variants causing episodic or chronic ataxia

2023-04-17

Abstract excerpt

<h4>Objective</h4> 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. <h4>Methods</h4> We collected genetic and electro-clinical data of ten individuals from nine unrelated families carr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 216476d2-674d-573e-8b4a-4b07cb4c6a6a
DOI: 10.1101/2023.04.12.23288299

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical and electrophysiological features of<i>SCN8A</i>variants causing episodic or chronic ataxiaDOI 10.1101/2023.04.12.23288299Read

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaSemantic proximity Read

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.Semantic proximity Read

The episodic ataxias.Semantic proximity Read

Clinical and genetic spectrum of SCN2A-associated episodic ataxiaSemantic proximity Read

Expanding the genotype-phenotype spectrum in SCN8A-related disordersSemantic proximity Read

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implicationsSemantic proximity Read

A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?Semantic proximity Read

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disabilitySemantic proximity Read

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsSemantic proximity Read

The <i>SCN1A</i> Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathySemantic proximity Read

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.Semantic proximity Read

Sodium channels and the neurobiology of epilepsy.Semantic proximity Read