Literature DB >> 32487525

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.

Andoni Echaniz-Laguna1,2,3, Valérie Biancalana4,5, Aleksandra Nadaj-Pakleza6, Emmanuel Fournier7, Emma Matthews8, Michael G Hanna8, Roope Männikkö9.   

Abstract

Entities:  

Keywords:  channels; myasthenia; neuromuscular

Year:  2020        PMID： 32487525      PMCID： PMC7115925          DOI： 10.1136/jnnp-2020-323173

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  13 in total

Review 1.  Sodium Channelopathies of Skeletal Muscle.

Authors:  Stephen C Cannon
Journal:  Handb Exp Pharmacol       Date:  2018

2.  Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Authors:  W David Arnold; Daniel H Feldman; Sandra Ramirez; Liuyuan He; Darine Kassar; Adam Quick; Tara L Klassen; Marian Lara; Joanna Nguyen; John T Kissel; Christoph Lossin; Ricardo A Maselli
Journal:  Ann Neurol       Date:  2015-03-27       Impact factor: 10.422

3.  Homozygosity for dominant mutations increases severity of muscle channelopathies.

Authors:  Marianne Arzel-Hézode; Damien Sternberg; Nacira Tabti; Savine Vicart; Cyril Goizet; Bruno Eymard; Bertrand Fontaine; Emmanuel Fournier
Journal:  Muscle Nerve       Date:  2010-04       Impact factor: 3.217

4.  Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Authors:  Akira Tsujino; Chantal Maertens; Kinji Ohno; Xin-Ming Shen; Taku Fukuda; C Michael Harper; Stephen C Cannon; Andrew G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-23       Impact factor: 11.205

5.  A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane.

Authors:  Daria V Sizova; Jianying Huang; Elizabeth J Akin; Mark Estacion; Carolina Gomis-Perez; Stephen G Waxman; Sulayman D Dib-Hajj
Journal:  J Biol Chem       Date:  2019-12-10       Impact factor: 5.157

6.  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

Review 7.  The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.

Authors:  An E Vanhaesebrouck; David Beeson
Journal:  Curr Opin Neurol       Date:  2019-10       Impact factor: 5.710

8.  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

9.  NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

Authors:  James R Groome; Frank Lehmann-Horn; Chunxiang Fan; Markus Wolf; Vern Winston; Luciano Merlini; Karin Jurkat-Rott
Journal:  Brain       Date:  2014-02-18       Impact factor: 13.501

10.  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
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  1 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
  1 in total

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