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

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

Epilepsy research - 1 Mar 2009

Sugiura Yoshihiro, Nakatsu Fubito, Hiroyasu Kiwamu, Ishii Atsushi, Hirose Shinichi, Okada Motohiro, Jibiki Itsuki, Ohno Hiroshi, Kaneko Sunao, Ugawa Yoshikazu

Abstract excerpt

BFNC is an autosomal dominant epileptic disorder caused by mutations of KCNQ2 or KCNQ3 potassium channel gene. W309R missense mutation in KCNQ3 gene was previously reported in a family with BFNC. In this study, potassium currents were recorded from HEK293 cells expressing both W309R mutant KCNQ3 and wild type KCNQ2 channels. We found a lack of potassium current in W309R mutant KCNQ3 and KCNQ2 channels, which can...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line, Transformed
Share to Electric Stimulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Benign Neonatal

Share to KCNQ3 Potassium Channel

Share to Membrane Potentials

Share to Neural Conduction

Share to Patch-Clamp Techniques

Share to Tryptophan

Source

Identifiers

PMID: 19167866
DOI: 10.1016/j.eplepsyres.2008.12.003

Genes

KCNQ3
KCNQ2

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

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).PMID 19167866Read ↗

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.Semantic proximity Read ↗

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).Semantic proximity Read ↗

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.Semantic proximity Read ↗

Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.Semantic proximity Read ↗

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.Semantic proximity Read ↗

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.Semantic proximity Read ↗

A Potassium Channel Mutation in Neonatal Human EpilepsySemantic proximity Read ↗

[Benign familial neonatal convulsions: molecular pathology and diagnosis].Semantic proximity Read ↗

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.Semantic proximity Read ↗

A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.Semantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.Semantic proximity Read ↗

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