Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.F1705I
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SCN4A

NM_000334.4:p.F1705I

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Yuan JH et al.

Frontiers in Neurology, 2023

Ca2+-dependent modulation of voltage-gated myocyte sodium channels.

Salvage SC et al.

Biochemical Society Transactions, 2021

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N et al.

Journal of Neurology, 2021

Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.

Nathan S et al.

The Journal of General Physiology, 2021

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

Desaphy JF et al.

Journal of Neuromuscular Diseases, 2021

Sodium Channelopathies of Skeletal Muscle.

Cannon SC

Handbook of Experimental Pharmacology, 2018

Channelopathies of skeletal muscle excitability.

Cannon SC

Comprehensive Physiology, 2015

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

Biswas S et al.

Plos One, 2013

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

Lehmann-Horn F et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011

Skeletal muscle na channel disorders.

Simkin D et al.

Frontiers in Pharmacology, 2011

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Kubota T et al.

Muscle & Nerve, 2009

A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.

Wu FF et al.

The Journal of Physiology, 2005

Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

Groome JR et al.

Channels (austin, Tex.), 0

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