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

Inherited neuromyotonia: a clinical and genetic study of a family.

Neuromuscular disorders : NMD - 1 Jan 2007

Falace Antonio, Striano Pasquale, Manganelli Fiore, Coppola Antonietta, Striano Salvatore, Minetti Carlo, Zara Federico

Abstract excerpt

Neuromyotonia is a disorder of peripheral nerve hyperexcitability characterized by myokymia, muscle cramps and stiffness, delayed muscle relaxation after contraction (pseudomyotonia), and hyperhidrosis, associated with well described spontaneous electromyographic features. It is usually an acquired disorder associated with autoantibodies against neuronal voltage-gated potassium channels. However, mutations of...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to KCNQ2 gene

Share to Mutation

Share to Pedigree

Share to Potassium Channels

Source

Identifiers

PMID: 17140792
DOI: 10.1016/j.nmd.2006.09.014

Genes

KCNA1
KCNQ2
KCNA2
KCNA6

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 · 10 closest

Inherited neuromyotonia: a clinical and genetic study of a family.PMID 17140792Read ↗

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.Semantic proximity Read ↗

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.Semantic proximity Read ↗

Further observations in congenital myasthenic syndromes.Semantic proximity Read ↗

Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers.Semantic proximity Read ↗

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.Semantic proximity Read ↗

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.Semantic proximity Read ↗

King syndrome: further clinical variability and review of the literature.Semantic proximity Read ↗

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.Semantic proximity Read ↗

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