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

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.

European journal of neurology - 1 May 2025

Periviita Vesa, Männikkö Roope, Jokela Manu, Sud Richa, Hanna Michael G, Udd Bjarne, Palmio Johanna

Abstract excerpt

BACKGROUND: This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. METHODS: Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations. Genetic studies were performed with targeted sequencing of all known myopathy genes. Functional changes resulting from these variants were studied with...

Topics

Join the communities discussing this publication.

Adolescent
Child
HEK293 Cells
Muscle, Skeletal
Myalgia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myotonic Disorders

NAV1.4 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 40344301
DOI: 10.1111/ene.70157
PMCID: PMC12062868

Genes

SCN4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.PMID 40344301Read ↗

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.Semantic proximity Read ↗

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.Semantic proximity Read ↗

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.Semantic proximity Read ↗

Analysis of a rare pathogenic variant of the SCN4A gene (c.4307T>C, L1436P): from clinic to patch-clampSemantic proximity Read ↗

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.Semantic proximity Read ↗

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.Semantic proximity Read ↗

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.Semantic proximity Read ↗

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotypeSemantic proximity Read ↗

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysisSemantic proximity Read ↗

Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.Semantic proximity Read ↗

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.Semantic proximity Read ↗

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