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 sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.

The Journal of physiology - 15 Dec 2000

Alekov A, Rahman M M, Mitrovic N, Lehmann-Horn F, Lerche H

Abstract excerpt

Generalized epilepsy with febrile seizures plus (GEFS+) is a benign epileptic syndrome of humans. It is characterized by febrile and afebrile generalized seizures that occur predominantly in childhood and respond well to standard antiepileptic therapy. A mutation in the b1-subunit of the voltage-gated sodium channel, linked to chromosome 19q13 (GEFS+ type 1) has been found in one family. For four other families,...

Read the complete abstract on PubMed

Topics

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

Share to Electrophysiology
Share to Epilepsy
Share to Hydrogen-Ion Concentration

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Patch-Clamp Techniques

Share to Reaction Time

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 11118488
DOI: 10.1111/j.1469-7793.2000.00533.x
PMCID: PMC2270215

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.PMID 11118488Read ↗

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.Semantic proximity Read ↗

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.Semantic proximity Read ↗

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

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationSemantic proximity Read ↗

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.Semantic proximity Read ↗

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.Semantic proximity Read ↗

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

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.Semantic proximity Read ↗

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).Semantic proximity Read ↗

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.Semantic proximity Read ↗

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.Semantic proximity Read ↗

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

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