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

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

3 Feb 2003

Abstract excerpt

A group of infant onset epilepsies manifest very frequent generalized tonic-clonic seizures (GTC) intractable to medical therapy, which may or may not be accompanied by minor seizures such as myoclonic seizures, absences and partial seizures. They include severe myoclonic epilepsy in infancy (SMEI) and intractable childhood epilepsy with GTC (ICEGTC). They are commonly associated with fever-sensitivity, family...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Genetics and Neurodevelopmental Disorders
Share to Ion Transport and Channel Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12566275
DOI: 10.1093/brain/awg053

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizuresPMID 12566275Read ↗

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsSemantic proximity Read ↗

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

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

The spectrum of SCN1A-related infantile epileptic encephalopathies.Semantic proximity Read ↗

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.Semantic proximity Read ↗

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.Semantic proximity Read ↗

Clinical spectrum of SCN1A mutations.Semantic proximity Read ↗

Milder phenotype with SCN1A truncation mutation other than SMEI.Semantic proximity Read ↗

[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].Semantic proximity Read ↗

Expanding spectrum of SCN1A-related phenotype with novel mutations.Semantic proximity Read ↗

SCN1A mutations and epilepsy.Semantic proximity Read ↗

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