Literature DB >> 28003497

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.

Sandra Mercier1, Xavière Lornage2, Edoardo Malfatti2, Pascale Marcorelles2, Franck Letournel2, Cécile Boscher2, Gaëlle Caillaux2, Armelle Magot2, Johann Böhm2, Anne Boland2, Jean-François Deleuze2, Norma Romero2, Yann Péréon2, Jocelyn Laporte2.   

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Year:  2016        PMID： 28003497      PMCID： PMC5272967          DOI： 10.1212/WNL.0000000000003535

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


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  7 in total

1.  Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Authors:  D Sternberg; T Maisonobe; K Jurkat-Rott; S Nicole; E Launay; D Chauveau; N Tabti; F Lehmann-Horn; B Hainque; B Fontaine
Journal:  Brain       Date:  2001-06       Impact factor: 13.501

Review 2.  Congenital myopathies: an update.

Authors:  Jessica R Nance; James J Dowling; Elizabeth M Gibbs; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2012-04       Impact factor: 5.081

3.  Focal and abnormally persistent paralysis associated with congenital paramyotonia.

Authors:  Armelle Magot; Albert David; Damien Sternberg; Yann Péréon
Journal:  BMJ Case Rep       Date:  2014-06-17

4.  Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Authors:  L J Ptáĉek; R Tawil; R C Griggs; G Meola; P McManis; R J Barohn; J R Mendell; C Harris; R Spitzer; F Santiago
Journal:  Neurology       Date:  1994-08       Impact factor: 9.910

5.  Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Authors:  E Plassart; J Reboul; C S Rime; D Recan; P Millasseau; B Eymard; J Pelletier; C Thomas; F Chapon; C Desnuelle
Journal:  Eur J Hum Genet       Date:  1994       Impact factor: 4.246

6.  A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Authors:  Karima Habbout; Hugo Poulin; François Rivier; Serena Giuliano; Damien Sternberg; Bertrand Fontaine; Bruno Eymard; Raul Juntas Morales; Bernard Echenne; Louise King; Michael G Hanna; Roope Männikkö; Mohamed Chahine; Sophie Nicole; Said Bendahhou
Journal:  Neurology       Date:  2015-12-11       Impact factor: 9.910

7.  Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Authors:  Irina T Zaharieva; Michael G Thor; Emily C Oates; Clara van Karnebeek; Glenda Hendson; Eveline Blom; Nanna Witting; Magnhild Rasmussen; Michael T Gabbett; Gianina Ravenscroft; Maria Sframeli; Karen Suetterlin; Anna Sarkozy; Luigi D'Argenzio; Louise Hartley; Emma Matthews; Matthew Pitt; John Vissing; Martin Ballegaard; Christian Krarup; Andreas Slørdahl; Hanne Halvorsen; Xin Cynthia Ye; Lin-Hua Zhang; Nicoline Løkken; Ulla Werlauff; Mena Abdelsayed; Mark R Davis; Lucy Feng; Rahul Phadke; Caroline A Sewry; Jennifer E Morgan; Nigel G Laing; Hilary Vallance; Peter Ruben; Michael G Hanna; Suzanne Lewis; Erik-Jan Kamsteeg; Roope Männikkö; Francesco Muntoni
Journal:  Brain       Date:  2015-12-22       Impact factor: 13.501
  7 in total
  2 in total

1.  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

Review 2.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638
  2 in total

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