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SCN4A gene

Known as: sodium voltage-gated channel alpha subunit 4, SCN4A, SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT 
National Institutes of Health

Related topics

Related topics

2 relations
Hyperkalemic periodic paralysisSCN4B gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Novel Antibodies Targeting MUC1-C Showed Anti-Metastasis and Growth-Inhibitory Effects on Human Breast Cancer Cells
Mucin1 (MUC1) is aberrantly glycosylated and overexpressed in various cancers, and it plays a crucial role in cancerogenesis… 
Review
2017
Review
2017
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature
ABSTRACT Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic… 
2016
2016
Arabidopsis MAKR 5 is a positive effector of BAM 3-dependent CLE 45 signaling
Receptor kinases convey diverse environmental and developmental inputs by sensing extracellular ligands. In plants, one group of… 
2015
2015
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
Abstract We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy… 
Highly Cited
2009
Highly Cited
2009
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
Background and Purpose Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are… 
2009
2009
The Cdc 42 effectors Ste 20 , Cla 4 and Skm 1 downregulate the expression of genes involved in sterol uptake by a MAPK-independent pathway
In Saccharomyces cerevisiae, the Rho-type GTPase Cdc42 regulates polarized growth through its effectors, including the p21… 
2008
2008
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
OBJECTIVE To construct and investigate the cell model of a novel mutation R675Q in the skeletal muscle Na channel type 4 alpha… 
2007
2007
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians
Background: Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM… 
2000
2000
Tissue distribution and functional expression of the human voltage-gated sodium channel β3 subunit
Abstract. This study investigated the distribution of β3 in human tissues and the functional effects of the human β3 subunit on… 
1998
1998
GENETIC-DIET INTERACTIONS IN THE HYPERKALEMIC PERIODIC PARALYSIS SYNDROME IN QUARTER HORSES FED VARYING AMOUNTS OF POTASSIUM: PART II-SYMPTOMS OF HYPP
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