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SCN4A gene
Known as:
sodium voltage-gated channel alpha subunit 4
, SCN4A
, SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT
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National Institutes of Health
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Related topics
Related topics
2 relations
Hyperkalemic periodic paralysis
SCN4B gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Спектр мутаций в гене SCN4A у пациентов с недистрофическими миотониями
Екатерина Александровна Иванова
,
Е. Л. Дадали
,
Г. Е. Руденская
,
Владимир Петрович Федотов
,
С.А. Курбатов
,
Александр Викторович Поляков
2018
Corpus ID: 209285845
Nondystrophic myotonias are a group of muscle channelopathies. Mutations of CLCN1 and SCN4A genes cause the dysfunction of…
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2017
2017
SCN4A as modifier gene in myotonic dystrophy type 2 (DM2) patients with early and severe myotonia
A. Binda
,
R. Cardani
,
+6 authors
I. Rivolta
2017
Corpus ID: 80399083
2011
2011
Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene
Gyung-Min Lee
,
June-Bum Kim
2011
Corpus ID: 14104930
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated…
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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
Meng Lin
,
Heike Unden
,
N. Jacquier
,
R. Schneiter
,
U. Just
,
T. Höfken
2009
Corpus ID: 30273816
In Saccharomyces cerevisiae, the Rho-type GTPase Cdc42 regulates polarized growth through its effectors, including the p21…
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2008
2008
Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies.
S. Lucchiari
,
S. Pagliarani
,
+6 authors
G. Comi
2008
Corpus ID: 88292505
2004
2004
Hypokalemic periodic paralysis: report of a Chinese pedigree with a novel mutation site in SCN4A gene
Zhao Yong-j
,
Ning Guang
2004
Corpus ID: 88448901
Objective To explore the genetic pathogenesis of hypokalemic periodic paralysis (HOKPP), an autosomal dominant disease by…
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