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1-7 of 7 results for Sodium channel myotonia

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Open access

Research article

First published 2024-04-30

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2021

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

Jean-François Desaphy, Concetta Altamura, Savine Vicart [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2022-8

Cannabidiol and Sodium Channel Pharmacology: General Overview,Mechanism,and Clinical Implications

Mohammad-Reza Ghovanloo, Peter C. Ruben

The Neuroscientist

Retricted access

Other

First published 1997-02

Myotonic Disorders in Childhood: Diagnosis and Treatment

Richard T. Moxley

Journal of Child Neurology

Retricted access

Case report

First published 2020-12

A case of paramyotonia congenita in pregnancy

EK Brooks, D Schweitzer, HL Robinson

Obstetric Medicine

Free access

Research article

First published 2019

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy,Myotonia and Multiple Congenital Anomalies

Megan Waldrop, Jakkrit Amornvit, Christopher R. Pierson [...]

Journal of Neuromuscular Diseases