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

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

Epilepsia - 1 Oct 2006

Ohmori Iori, Kahlig Kristopher M, Rhodes Thomas H, Wang Dao W, George Alfred L

Abstract excerpt

PURPOSE: Mutations in SCN1A, encoding the human Na(V)1.1 neuronal voltage-gated sodium channel, cause the syndrome of severe myoclonic epilepsy of infancy (SMEI). Most SMEI-associated mutations are predicted to truncate the SCN1A protein, likely causing a loss of sodium channel function. However, many missense or in-frame deletion SCN1A mutations have also been reported in this disorder, but their functional...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsies, Myoclonic
Share to Gene Expression
Share to Membrane Potentials

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

Share to Patch-Clamp Techniques

Share to Sodium Channels

Source

Identifiers

PMID: 17054685
DOI: 10.1111/j.1528-1167.2006.00643.x

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

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.PMID 17054685Read ↗

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

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

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

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

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

Clinical spectrum of SCN1A mutations.Semantic proximity Read ↗

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).Semantic proximity Read ↗

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

SCN1A mutations and epilepsy.Semantic proximity Read ↗

Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.Semantic proximity Read ↗

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

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.Semantic proximity Read ↗

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