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

The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Sept 2002

Warnstedt Maike, Sun Chen, Poser Barbara, Escriva Maria Jose, Tranebjaerg Lisbeth, Torbergsen Torberg, van Ghelue Marijke, Fahlke Christoph

Abstract excerpt

Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction. Here, we examine the functional consequences of a novel disease-causing mutation that predicts the substitution of alanine by threonine at position 331 (A331T) by whole-cell patch-clamp recording of recombinant mutant...

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to Conserved Sequence

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

Share to Dimerization

Share to Ion Channel Gating

Share to Kidney

Share to Membrane Potentials

Share to Myotonia Congenita

Share to Patch-Clamp Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 12196568
PMCID: PMC6758003

Genes

CLCN1

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

The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.PMID 12196568Read ↗

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.Semantic proximity Read ↗

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.Semantic proximity Read ↗

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.Semantic proximity Read ↗

ClC-1 chloride channels: state-of-the-art research and future challengesSemantic proximity Read ↗

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing MutationsSemantic proximity Read ↗

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Semantic proximity Read ↗

Mechanism of Inverted Activation of ClC-1 Channels Caused by a Novel Myotonia Congenita MutationSemantic proximity Read ↗

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.Semantic proximity Read ↗

Structure of the human ClC-1 chloride channelSemantic proximity Read ↗

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.Semantic proximity Read ↗

A novel alteration of muscle chloride channel gating in myotonia levior.Semantic proximity Read ↗

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.Semantic proximity Read ↗

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