Treatment of Paramyotonia Congenita with Acetazolamide [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1987 Abstract:Treatment of paramyotonia congenita with acetazolamide has been shown to reduce myotonic symptoms but severe weakness has developed in some patients leading to a recommendation not to use the drug in this disorder. We studied a patient with the characteristic clinical and electrophysiological profile of paramyotonia congenita.
T J, Benstead, P R, Camfield, D B, King
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Frontiers in Neurology, 2020 Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi +31 more
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Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
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Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy [PDF]
, 2021 Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially ...
Concetta Altamura +3 more
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Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
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Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]
, 2014 Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A. +7 more
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An analysis of myotonia in paramyotonia congenita [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1974 In two subjects with paramyotonia congenita myotonic delay in muscle relaxation, recorded electromyographically and with a displacement transducer, was found to increase with repeated forceful contractions. Myotonia was elicited readily in warm temperatures, was initially aggravated by cooling, but was invariably lost as muscle fatigue developed.
D, Burke, N F, Skuse, A K, Lethlean
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Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
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Skeletal Muscle Na+ Channel Disorders [PDF]
, 2011 Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4.
Bendahhou, Saïd, Simkin, Dina
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