Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R675W
Back to variants list

SCN4A

NM_000334.4:p.R675W

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.

Shin HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2024

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

Kubota T et al.

Disease Models & Mechanisms, 2023

Steroid-induced hypokalemic periodic paralysis: a case report and literature review.

Tai HT et al.

Bmc Nephrology, 2023

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.

Tan X et al.

The Journal of International Medical Research, 2020

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.

Shi J et al.

Frontiers in Neurology, 2019

Gating Pore Currents in Sodium Channels.

Groome JR et al.

Handbook of Experimental Pharmacology, 2018

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.

Fu C et al.

Frontiers in Neurology, 2018

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.

Chung KW et al.

Journal of Clinical Neurology (seoul, Korea), 2016

Normokalemic periodic paralysis is not a distinct disease.

Song YW et al.

Muscle & Nerve, 2012

Skeletal muscle na channel disorders.

Simkin D et al.

Frontiers in Pharmacology, 2011

Glucocorticoids may trigger attacks in several types of periodic paralysis.

Arzel-Hézode M et al.

Neuromuscular Disorders : Nmd, 2009

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

Vicart S et al.

Neurology, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."