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

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Molecular psychiatry - 1 Feb 2003

Weiss L A, Escayg A, Kearney J A, Trudeau M, MacDonald B T, Mori M, Reichert J, Buxbaum J D, Meisler M H

Abstract excerpt

Autism is a psychiatric disorder with estimated heritability of 90%. One-third of autistic individuals experience seizures. A susceptibility locus for autism was mapped near a cluster of voltage-gated sodium channel genes on chromosome 2. Mutations in two of these genes, SCN1A and SCN2A, result in the seizure disorder GEFS+. To evaluate these sodium channel genes as candidates for the autism susceptibility locus,...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Family Health
Share to Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

Share to Protein Structure, Tertiary

Share to Sodium Channels

Source

Identifiers

PMID: 12610651
DOI: 10.1038/sj.mp.4001241

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

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.PMID 12610651Read ↗

SCN1A mutations and epilepsy.Semantic proximity Read ↗

Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures.Semantic proximity Read ↗

Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.Semantic proximity Read ↗

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Semantic proximity Read ↗

Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report.Semantic proximity Read ↗

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.Semantic proximity Read ↗

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.Semantic proximity Read ↗

A De Novo Missense Variant of SCN2A: Implications and Limitations for Understanding Clinical Phenotype and Treatment Recommendations.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic EpilepsySemantic proximity Read ↗

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.Semantic proximity Read ↗

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.Semantic proximity Read ↗

Autism-related phenotypes in a heterozygous Scn2aR854Q mouse model and their partial rescue via a potassium channel opener.Semantic proximity Read ↗

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