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

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Dec 2003

Lossin Christoph, Rhodes Thomas H, Desai Reshma R, Vanoye Carlos G, Wang Dao, Carniciu Sanda, Devinsky Orrin, George Alfred L

Abstract excerpt

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 subunit (NaV1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of four GEFS+ alleles and one SMEI allele using whole-cell patch-clamp analysis of heterologously expressed recombinant...

Read the complete abstract on PubMed

Topics

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

Share to Electric Conductivity
Share to Epilepsies, Myoclonic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Ion Channel Gating

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Patch-Clamp Techniques

Share to Seizures, Febrile

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 14672992
PMCID: PMC6740520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.PMID 14672992Read ↗

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancySemantic proximity Read ↗

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

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.Semantic proximity Read ↗

Clinical spectrum of SCN1A mutations.Semantic proximity Read ↗

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.Semantic proximity Read ↗

Rasmussen encephalitis associated with SCN 1 A mutation.Semantic proximity Read ↗

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

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.Semantic proximity Read ↗

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.Semantic proximity Read ↗

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndromeSemantic proximity Read ↗

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.Semantic proximity Read ↗

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