Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family

Journal of Clinical Neuroscience

Volumn 18, Issue 8, 2011, Pages 1138-1140

  Feng, Yu ^a   Ji, Xinping ^a   Sun, Xiaohong ^a   Wang, Hong ^a   Zhang, Chaodong ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

Exercise test; Met1592 Val; Paralysis periodica paramyotonia; Progressive myopathy; SCN4A

Indexed keywords

ACETAZOLAMIDE; METHIONINE; VALINE;

ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAM; EVOKED MUSCLE RESPONSE; EXERCISE TEST; FAMILY STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOPATHY; MYOTONIA; PARALYSIS PERIODICA PARAMYOTONIA; PHENOTYPE; PRIORITY JOURNAL; SCN4A GENE; VOLTAGE GATED SODIUM CHANNEL GENE;

CHINA; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METHIONINE; MUSCLE, SKELETAL; MUTATION; MYOTONIC DISORDERS; NEURAL CONDUCTION; PHENOTYPE; SODIUM CHANNELS; VALINE;

EID: 79960742834     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2010.12.035     Document Type: Article

References (9)

1. S. Vicart, D. Sternberg, and B. Fontaine Human skeletal muscle sodium channelopathies Neurol Sci 26 2005 194 202 (Pubitemid 41447817)
2. G. Meola, M.G. Hanna, and B. Fontaine Diagnosis and new treatment in muscle channelopathies J Neurol Neurosurg Psychiatry 80 2009 360 365
3. P.G. McManis, E.H. Lambert, and J.R. Daube The exercise test in periodic paralysis Muscle Nerve 9 1986 704 710 (Pubitemid 16020212)
4. F. Brancati, E.M. Valente, and N.P. Davies Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A J Neurol Neurosurg Psychiatry 74 2003 1339 1341
5. I. Taylor, and M. Parsons Hypokalemic paralysis revealing Sjogren's syndrome J Clin Neurosci 11 2004 319 321 (Pubitemid 38315995)
6. W.H. Chen, H.L. Yin, and H.S. Lin Delayed hypokalemic paralysis following a convulsion due to alcohol abstinence J Clin Neurosci 13 2006 453 456
7. M. Arzel-Hezode, D. Sternberg, and N. Tabti Homozygosity for dominant mutations increases severity of muscle channelopathies Muscle Nerve 41 2010 470 477
8. D.S. Saperstein Muscle channelopathies Semin Neurol 28 2008 260 269 (Pubitemid 351438986)
9. W. Stuhmer, F. Conti, and H. Suzuki Structural parts involved in activation and inactivation of the sodium channel Nature 339 1989 597 603 (Pubitemid 19174342)