Journal of Molecular Neuroscience

, Volume 61, Issue 3, pp 312–314 | Cite as

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

  • Jihane N. Benhammou
  • Jennifer Phan
  • Hane Lee
  • Kevin Ghassemi
  • William Parsons
  • Wayne W. Grody
  • Joseph R. Pisegna
Article
  • 196 Downloads

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.

Keywords

SCN4A Myotonia Dysphagia 

Notes

Acknowledgements

This work received the grant support from: the Department of Veterans Affairs RR&D Merit Review (JRP) I01 RX000194; Human Studies CORE through CURE: Digestive Diseases Research Center supported by NIH grant P30DK41301; NIH Training Grant NIDDK T32 (JNB).

References

  1. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S et al (2014) Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurology 71(10):1237–1246CrossRefPubMedPubMedCentralGoogle Scholar
  2. Fontaine B et al (1990) Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 250:1000–1002CrossRefPubMedGoogle Scholar
  3. Kokunai Y et al (2012) A sodium channel myotonia due to a novel SCN4A mutation accompanuied by acquired autoimmune myasthenia gravis. Neurosci Lett 519:67–72CrossRefPubMedGoogle Scholar
  4. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M et al (2014) Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312(18):1880–1887CrossRefPubMedPubMedCentralGoogle Scholar
  5. McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF (1992) The genomic structure of the human skeletal muscle sodium channel gene. Hum Molec Genet 1:521–527CrossRefPubMedGoogle Scholar
  6. Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB (2008) Tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 16(8):921–929. doi: 10.1038/ejhg.2008.39 CrossRefPubMedGoogle Scholar
  7. Trivedi JR, Cannon SC, Griggs RC (2014) Nondystrophic myotonia: challenges and future directions. Exp Neurol 253:28–30. doi: 10.1016/j.expneurol.2013.12.005 CrossRefPubMedGoogle Scholar
  8. Wang J, Rojas CV, Zhou J, Schwartz LS, Nicholas H, Hoffman EP (1992) Sequence and genomics structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. Biochem Biophys Res Commun 182:794–801CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York (outside the USA) 2016

Authors and Affiliations

  • Jihane N. Benhammou
    • 1
    • 2
  • Jennifer Phan
    • 1
    • 2
  • Hane Lee
    • 1
    • 2
  • Kevin Ghassemi
    • 1
    • 2
  • William Parsons
    • 1
    • 2
  • Wayne W. Grody
    • 1
    • 2
  • Joseph R. Pisegna
    • 1
    • 2
  1. 1.Division of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human GeneticsDavid Geffen School of Medicine at UCLALos AngelesUSA
  2. 2.Division of Gastroenterology, Hepatology and Parenteral NutritionVA Greater Los Angeles Healthcare System (691/111C)Los AngelesUSA

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