Literature DB >> 10851391

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.

Y Sugiura1, T Aoki, Y Sugiyama, C Hida, M Ogata, T Yamamoto.   

Abstract

The authors report a Japanese family with dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia. This phenotype is associated with a novel mutation in the voltage-dependent skeletal muscle sodium channel alpha subunit (SCN4A). This Pro1158Ser mutation is localized between the fourth and fifth transmembrane segments of domain III in SCN4A and may give rise to a new function; that is, thermosensitive permeability changes of the sodium channel.

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Year:  2000        PMID： 10851391     DOI： 10.1212/wnl.54.11.2179

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

1.  Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

Authors:  Jadon Webb; Stephen C Cannon
Journal:  Neurology       Date:  2007-09-26       Impact factor: 9.910

2.  Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.

Authors:  Thomas Carle; Emmanuel Fournier; Damien Sternberg; Bertrand Fontaine; Nacira Tabti
Journal:  J Physiol       Date:  2009-02-16       Impact factor: 5.182

3.  Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Authors:  Jean-François Desaphy; Concetta Altamura; Savine Vicart; Bertrand Fontaine
Journal:  J Neuromuscul Dis       Date:  2021

4.  Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Authors:  Jean-François Desaphy; Roberta Carbonara; Adele D'Amico; Anna Modoni; Julien Roussel; Paola Imbrici; Serena Pagliarani; Sabrina Lucchiari; Mauro Lo Monaco; Diana Conte Camerino
Journal:  Neurology       Date:  2016-04-29       Impact factor: 9.910

5.  Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Authors:  Sushan Luo; Marisol Sampedro Castañeda; Emma Matthews; Richa Sud; Michael G Hanna; Jian Sun; Jie Song; Jiahong Lu; Kai Qiao; Chongbo Zhao; Roope Männikkö
Journal:  Sci Rep       Date:  2018-06-26       Impact factor: 4.379

6.  [I1363T mutation induces the defects in fast inactivation of human skeletal muscle voltage-gated sodium channel].

Authors:  Siyang Tang; Jia Ye; Yuezhou Li
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2019-05-25

7.  Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Authors:  Hugo Poulin; Pascal Gosselin-Badaroudine; Savine Vicart; Karima Habbout; Damien Sternberg; Serena Giuliano; Bertrand Fontaine; Saïd Bendahhou; Sophie Nicole; Mohamed Chahine
Journal:  Sci Rep       Date:  2018-02-01       Impact factor: 4.379
  7 in total

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