Article

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

2021-03-26

Abstract excerpt

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Na(v)1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); Group 2, i...

Topics

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

Identifiers and source

Literature Corpus work: 25cd888b-c82c-5f02-b1f0-f8a1df5f2a64
DOI: 10.1101/2021.03.22.21253711v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsDOI 10.1101/2021.03.22.21253711v1Read

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.Semantic proximity Read

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

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.Semantic proximity Read

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.Semantic proximity Read

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

Molecular and Cellular Context Influences SCN8A Variant FunctionSemantic proximity Read

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.Semantic proximity Read

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

SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.Semantic proximity Read

Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.Semantic proximity Read

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.Semantic proximity Read