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.
This is a preview of subscription content, log in via an institution to check access.
References
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):1237–1246
Fontaine B et al (1990) Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 250:1000–1002
Kokunai Y et al (2012) A sodium channel myotonia due to a novel SCN4A mutation accompanuied by acquired autoimmune myasthenia gravis. Neurosci Lett 519:67–72
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):1880–1887
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 1:521–527
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
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
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 182:794–801
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).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Benhammou, J.N., Phan, J., Lee, H. et al. A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. J Mol Neurosci 61, 312–314 (2017). https://doi.org/10.1007/s12031-016-0878-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12031-016-0878-5