Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.

Acta pharmacologica Sinica - 1 Dec 2022

Guo Qian-Bei, Zhan Li, Xu Hai-Yan, Gao Zhao-Bing, Zheng Yue-Ming

Abstract excerpt

De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel NaV1.6 are linked to a severe form of early infantile epileptic encephalopathy named early infantile epileptic encephalopathy type13 (EIEE13). The majority of the patients with EIEE13 does not respond favorably to the antiepileptic drugs (AEDs) in clinic and has a significantly increased risk of death. Although more than 60...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Sodium Channels
Share to Anticonvulsants

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cricetinae

Share to Cricetulus

Share to Epilepsy

Share to Gain of Function Mutation

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 35902765
DOI: 10.1038/s41401-022-00955-x
PMCID: PMC9712530

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.PMID 35902765Read ↗

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Semantic proximity Read ↗

Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.Semantic proximity Read ↗

Differential effects of sodium channel blockers on <i>SCN8A</i> gain-of-function variants associated with drug-responsive or -resistant epilepsySemantic proximity Read ↗

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

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

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathySemantic proximity Read ↗

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.Semantic proximity Read ↗

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

Mutations in SCN3A cause early infantile epileptic encephalopathy.Semantic proximity Read ↗

SCN8A gain-of-function mutation is associated with a relatively mild phenotype of epilepsySemantic proximity Read ↗

The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.Semantic proximity Read ↗

Distinct functional alterations in SCN8A epilepsy mutant channelsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.