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

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

American journal of human genetics - 1 Apr 2001

Escayg A, Heils A, MacDonald B T, Haug K, Sander T, Meisler M H

Abstract excerpt

We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel...

Read the complete abstract on PubMed

Topics

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

Share to Conserved Sequence
Share to Cyclic AMP-Dependent Protein Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Epilepsy, Generalized

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Protein-Tyrosine Kinases

Share to Seizures, Febrile

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 11254445
DOI: 10.1086/319524
PMCID: PMC1275640

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

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.PMID 11254445Read ↗

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

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

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.Semantic proximity Read ↗

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.Semantic proximity Read ↗

A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.Semantic proximity Read ↗

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.Semantic proximity Read ↗

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.Semantic proximity Read ↗

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.Semantic proximity Read ↗

The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.Semantic proximity Read ↗

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

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.Semantic proximity Read ↗

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