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Article

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.

Journal of neurology - 1 Jul 2006

Poujois A, Antoine J-Ch, Combes A, Touraine R L

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16511644
DOI: 10.1007/s00415-006-0134-y

Genes

KCNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.PMID 16511644Read ↗

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctionsSemantic proximity Read ↗

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.Semantic proximity Read ↗

Inherited neuromyotonia: a clinical and genetic study of a family.Semantic proximity Read ↗

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesSemantic proximity Read ↗

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.Semantic proximity Read ↗

<i>KCNMA1</i> -linked channelopathySemantic proximity Read ↗

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.Semantic proximity Read ↗

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 ChannelopathySemantic proximity Read ↗

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.Semantic proximity Read ↗

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrumSemantic proximity Read ↗

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