DG Francis, V Rybalchenko, A Struyk… - Neurology, 2011 - AAN Enterprises Background:Hypokalemic periodic paralysis (HypoPP) is associated with mutations in either the Ca V 1.1 calcium channel or the Na V 1.4 sodium channel. Some Na V 1.4 HypoPP mutations have been shown to cause an anomalous inward current that may contribute to the ... Cited by 2 - Related articles - All 4 versions
N El-Bizri, KM Kahlig, JC Shyrock… - Channels (Austin, …, 2011 - ncbi.nlm.nih.gov The antianginal drug ranolazine exerts voltage- and use-dependent block (UDB) of several Na (+) channel isoforms, including NaV 1.4. We hypothesized that ranolazine will similarly inhibit the paramyotonia congenita NaV 1.4 gain-of-function mutations, R1448C, R1448H, and ... All 5 versions
Y Feng, X Ji, X Sun, H Wang… - Journal of Clinical Neuroscience, 2011 - Elsevier Paralysis periodica paramyotonia (PPP) is caused by mutation of the adult skeletal muscle sodium channel gene's alpha (α)-subunit (SCN4A). Here, we report four generations of a Chinese family affected by a remarkably severe form of PPP with progressive myopathy. Routine ... Related articles - All 2 versions
[PDF] from neurology-asia.orgGM Lee… - Neurology Asia, 2011 - neurology-asia.org Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for ... Related articles - View as HTML - All 2 versions
E Matthews, AY Manzur, R Sud, F Muntoni… - Archives of …, 2011 - Am Med Assoc ... ABSTRACT Objective To describe stridor as the presenting feature in a neonate with the skeletal muscle sodium channelopathy paramyotonia congenita. Design Case report. ... Patient A child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita. ... Related articles - All 4 versions
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