A paralysis periodica paramyotonia congenital pedigree: Clinic and molecular genetic studies

Chinese Journal of Neurology

Volumn 42, Issue 3, 2009, Pages 152-156

  Feng, Yu ^a   Wang, Hong ^a   Liu, Zhong Lan ^a   Zhang, Chao Dong ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

Muscle, skeletal; Myotonic disorders; Paralysis, familial periodic; Pedigree; Sodium channels

Indexed keywords

EID: 63049112034     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1006-7876.2009.03.003     Document Type: Article

References (18)

1. Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene. Science, 1990, 250: 1000-1002.
2. Stühmer W, Conti F, Suzuki H, et al. Structural parts involved in activation and inactivation of the sodium channel. Nature, 1989, 339: 597-603
3. Griggs RC, Ptácek LJ. Mutations of sodium channels in periodic paralysis. Neurology, 1999, 52: 1309-1310.
4. Sugiura Y, Aoki T, Sugiyama Y, et al. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology, 2000, 54: 2179-2181.
5. Brancatil F, Valente EM, Davies NP, et al. Severe in fantile hyperkaliemic periodic paralysis and paramyotonia congenital: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry, 2003, 74: 1339-1341.
6. Hsu WC, Huang YC, Wang CW, et al. Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation. J Formos Med Assoc, 2006, 105: 503-507.
7. McManis PG, Lambert EH, Daube JR. The exercise test in periodic paralysis. Muscle Nerve, 1986, 9: 704-710.
8. Eulenburg A, Landois L. On nerve regeneration with the application of the suture. 1865. J Mol Med, 2001, 79: 4-5.
9. Becker PE. Genetic approaches to die nosology of muscular disease: myotonias and similar diseases. Birth Defects Orig Artie Ser, 1971, 7: 52-62
10. Bradley WG, Taylor R, Rice DR, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol, 1990, 47: 1013-1017.
11. Pearson CM. The periodic paralysis: differential features and pathological observations in permanent myopathic weakness. Brain, 1964, 87: 341-354.
12. Founder E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol, 2004, 56: 650-661.
13. Feng Y, Zhang Y, Liu ZL, et al. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene. Chin Med J (Engl), 2008, 121: 1915-1919.
14. Chinnery PF, Walls TJ, Hanna MG. Normokalemic periodic paralysis recisited: does it exist? Ann Nerurol, 2002, 52: 251-252.
15. Rojas CV, Wang JZ, Schwartz LS, et al. A Met-to-Val mutation in the skeletal muscle Na + channel alpha-subunit in hyperkaliemic periodic paralysis. Nature, 1991, 354: 387-389.
16. Ferriby D, Stojkovic T, Sternberg D, et al. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. Neuromuscul Disord, 2006, 16: 321-324.
17. Kim J, Hahn Y, Sohn EH, et al. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry, 2001, 70: 618-623.
18. Okuda S, Kanda F, Nishimoto K, et al. Hyperkalemic periodic paralysis and paramyotonia congenita-a novel sodium channel mutation. J Neurol, 2001, 248: 1003-1004.