Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.I215T
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SCN4A

NM_000334.4:p.I215T

Associated Papers

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Talarico M et al.

Epilepsia Open, 2024

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

Desaphy JF et al.

Journal of Neuromuscular Diseases, 2021

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4.

Pagliarani S et al.

Frontiers in Neurology, 2020

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Maggi L et al.

Frontiers in Neurology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."