Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R219K
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SCN4A

NM_000334.4:p.R219K

Associated Papers

Periodic paralysis.

Cannon SC

Handbook of Clinical Neurology, 2024

Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.

Kubota T et al.

Disease Models & Mechanisms, 2023

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Striessnig J

Frontiers in Synaptic Neuroscience, 2021

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Nicole S et al.

Frontiers in Pharmacology, 2021

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.

Kubota T et al.

Brain Communications, 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."