Literature DB >> 19015492

Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

E Matthews1, A Guet, M Mayer, S Vicart, S Pemble, D Sternberg, B Fontaine, M G Hanna.   

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Year:  2008        PMID： 19015492      PMCID： PMC2676969          DOI： 10.1212/01.wnl.0000335269.21550.0e

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


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  6 in total

1.  Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Authors:  E Plassart; B Eymard; L Maurs; J J Hauw; O Lyon-Caen; M Fardeau; B Fontaine
Journal:  J Neurol Sci       Date:  1996-10       Impact factor: 3.181

2.  Electromyography guides toward subgroups of mutations in muscle channelopathies.

Authors:  Emmanuel Fournier; Marianne Arzel; Damien Sternberg; Savine Vicart; Pascal Laforet; Bruno Eymard; Jean-Claude Willer; Nacira Tabti; Bertrand Fontaine
Journal:  Ann Neurol       Date:  2004-11       Impact factor: 10.422

3.  Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Authors:  Sébastien Gay; Delphine Dupuis; Laurence Faivre; Alice Masurel-Paulet; Marc Labenne; Marina Colombani; Pierre Soichot; Frédéric Huet; Bernard Hainque; Damien Sternberg; Bertrand Fontaine; Jean-Bernard Gouyon; Christel Thauvin-Robinet
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

4.  Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

Authors:  H Lerche; R Heine; U Pika; A L George; N Mitrovic; M Browatzki; T Weiss; M Rivet-Bastide; C Franke; M Lomonaco
Journal:  J Physiol       Date:  1993-10       Impact factor: 5.182

5.  Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.

Authors:  Vincent Laugel; Mireille Cossée; Jacqueline Matis; Anne de Saint-Martin; Andoni Echaniz-Laguna; Jean-Louis Mandel; Dominique Astruc; Michel Fischbach; Jean Messer
Journal:  Eur J Pediatr       Date:  2007-07-20       Impact factor: 3.183

6.  What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Authors:  E Matthews; S V Tan; D Fialho; M G Sweeney; R Sud; A Haworth; E Stanley; G Cea; M B Davis; M G Hanna
Journal:  Neurology       Date:  2008-01-01       Impact factor: 9.910
  6 in total
  9 in total

1.  When all is lost…a severe myopathy with hypotonia from sodium channel mutations.

Authors:  Stephen C Cannon
Journal:  Brain       Date:  2016-03       Impact factor: 13.501

Review 2.  Guidelines on clinical presentation and management of nondystrophic myotonias.

Authors:  Bas C Stunnenberg; Samantha LoRusso; W David Arnold; Richard J Barohn; Stephen C Cannon; Bertrand Fontaine; Robert C Griggs; Michael G Hanna; Emma Matthews; Giovanni Meola; Valeria A Sansone; Jaya R Trivedi; Baziel G M van Engelen; Savine Vicart; Jeffrey M Statland
Journal:  Muscle Nerve       Date:  2020-05-27       Impact factor: 3.217

3.  A case of paramyotonia congenita in pregnancy.

Authors:  E K Brooks; D Schweitzer; H L Robinson
Journal:  Obstet Med       Date:  2019-01-31

Review 4.  Myotonic disorders and pregnancy.

Authors:  Adam Morton
Journal:  Obstet Med       Date:  2019-03-16

Review 5.  The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Authors:  E Matthews; D Fialho; S V Tan; S L Venance; S C Cannon; D Sternberg; B Fontaine; A A Amato; R J Barohn; R C Griggs; M G Hanna
Journal:  Brain       Date:  2009-11-16       Impact factor: 13.501

6.  A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.

Authors:  Majid Pasandideh; Ghodrat Rahimi-Mianji; Mohsen Gholizadeh
Journal:  J Genet       Date:  2018-06       Impact factor: 1.166

Review 7.  An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Authors:  Fernando Morales; Michael Pusch
Journal:  Front Neurol       Date:  2020-01-17       Impact factor: 4.003

8.  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

9.  Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

Authors:  Frank Lehmann-Horn; Adele D'Amico; Enrico Bertini; Mauro Lomonaco; Luciano Merlini; Kevin R Nelson; Heike Philippi; Gabriele Siciliano; Frank Spaans; Karin Jurkat-Rott
Journal:  Acta Myol       Date:  2017-09-01
  9 in total

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