Literature DB >> 28012096

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Jihane N Benhammou1,2, Jennifer Phan1,2, Hane Lee1,2, Kevin Ghassemi1,2, William Parsons1,2, Wayne W Grody1,2, Joseph R Pisegna3,4.   

Abstract

The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.

Entities:  

Keywords:  Dysphagia; Myotonia; SCN4A

Mesh：

Substances：

Year:  2016        PMID： 28012096      PMCID： PMC5346050          DOI： 10.1007/s12031-016-0878-5

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


  8 in total

1.  The genomic structure of the human skeletal muscle sodium channel gene.

Authors:  A I McClatchey; C S Lin; J Wang; E P Hoffman; C Rojas; J F Gusella
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

2.  A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Authors:  Yosuke Kokunai; Keigo Goto; Tomoya Kubota; Takaaki Fukuoka; Saburo Sakoda; Tohru Ibi; Manabu Doyu; Hideki Mochizuki; Ko Sahashi; Masanori P Takahashi
Journal:  Neurosci Lett       Date:  2012-05-14       Impact factor: 3.046

3.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

4.  Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

Authors:  B Fontaine; T S Khurana; E P Hoffman; G A Bruns; J L Haines; J A Trofatter; M P Hanson; J Rich; H McFarlane; D M Yasek
Journal:  Science       Date:  1990-11-16       Impact factor: 47.728

5.  Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors:  Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

6.  Nondystrophic myotonia: challenges and future directions.

Authors:  Jaya R Trivedi; Stephen C Cannon; Robert C Griggs
Journal:  Exp Neurol       Date:  2013-12-18       Impact factor: 5.330

7.  In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Authors:  Jeroen Trip; Gea Drost; Dennis J Verbove; Anneke J van der Kooi; Jan B M Kuks; Nicolette C Notermans; Jan J Verschuuren; Marianne de Visser; Baziel G M van Engelen; Carin G Faber; Ieke B Ginjaar
Journal:  Eur J Hum Genet       Date:  2008-03-12       Impact factor: 4.246

8.  Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.

Authors:  J Z Wang; C V Rojas; J H Zhou; L S Schwartz; H Nicholas; E P Hoffman
Journal:  Biochem Biophys Res Commun       Date:  1992-01-31       Impact factor: 3.575
  8 in total

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