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

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 8 Mar 2006

Barela Arthur J, Waddy Salina P, Lickfett Jay G, Hunter Jessica, Anido Aimee, Helmers Sandra L, Goldin Alan L, Escayg Andrew

Abstract excerpt

Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). A novel mutation, R859C, in the Nav1.1 sodium channel was identified in a four-generation, 33-member Caucasian family with a clinical presentation consistent with GEFS+. The mutation...

Read the complete abstract on PubMed

Topics

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

Share to Action Potentials
Share to Dose-Response Relationship, Radiation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Neurological

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Sodium Channel Blockers

Share to Sodium Channels

Share to Tetrodotoxin

Share to Xenopus

Source

Open in PubMed Open full text

Identifiers

PMID: 16525050
DOI: 10.1523/JNEUROSCI.2977-05.2006
PMCID: PMC6675156

Genes

GABRD
GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.PMID 16525050Read ↗

NaV1.1 channels and epilepsy.Semantic proximity Read ↗

Sodium channel SCN1A and epilepsy: mutations and mechanisms.Semantic proximity Read ↗

Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.Semantic proximity Read ↗

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.Semantic proximity Read ↗

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.Semantic proximity Read ↗

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.Semantic proximity Read ↗

Expanding the GEFS+ Spectrum: Functional Characterization Of A SCN1B VariantSemantic proximity Read ↗

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

Molecular basis of an inherited epilepsy.Semantic proximity Read ↗

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.Semantic proximity Read ↗

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.Semantic proximity Read ↗

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