Clinical and neurophysiological variability in Andersen‐Tawil syndrome
Author:
Affiliation:
1. Department of NeurologyDokkyo Medical University Tochigi Japan
2. Department of CardiologyShizuoka Saiseikai General Hospital Shizuoka Japan
3. Department of Cardiovascular MedicineShiga University of Medical Science Shiga Japan
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26705
Reference18 articles.
1. Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome
2. The primary periodic paralyses: diagnosis, pathogenesis and treatment
3. Targeted Disruption of Kir2.1 and Kir2.2 Genes Reveals the Essential Role of the Inwardly Rectifying K + Current in K + -Mediated Vasodilation
4. Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome
5. KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes
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1. Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7;Journal of Translational Medicine;2024-03-25
2. Andersen-Tawil syndrome;Handbook of Clinical Neurology;2024
3. Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome;European Journal of Neurology;2022-05-04
4. Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome;Case Reports in Neurology;2021-08-02
5. Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide;Neuromuscular Disorders;2021-07
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