Mutations of sodium channel α-subunit genes in Chinese patients with normokalemic periodic paralysis

Cellular and Molecular Neurobiology

Volumn 28, Issue 5, 2008, Pages 653-661

  Xiuhai, Guo ^a   Weiping, Wu ^a   Ke, Zhu ^a   Hongbin, Wang ^a   Yiling, Si ^a   Maoyanling, ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Mutation; Normokalemic periodic paralysis; SCN4A; Sodium channel

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; PERIODIC PARALYSIS; PRIORITY JOURNAL; SCN4A GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; PARALYSES, FAMILIAL PERIODIC; SODIUM CHANNELS;

EID: 46149083720     PISSN: 02724340     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10571-007-9231-4     Document Type: Article

References (17)

1. Andrew L, Chesson JR, Sydney S et al (1979) Biphasic periodic paralysis. Arch Neurol 36:700-704
2. Baquero JL, Ayala RA, Wang J et al (1995) Hyperkalemic periodic paralasis with cardiac dysrhythmia: a novel sodium channel mutation? Ann Neurol 37:408-411
3. Bendahhou S, Cummins TR, Tawil R et al (1999) Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci 19(12):4762-4771
4. Brooke MH (1977) A clinician's view of neuromuscular disease. Williams & Wilkins CO, Baltimore, pp 182-194
5. Chesson AL Jr, Schochet SS Jr, Peters BH (1979) Biphasic periodic paralysis. Arch Neurol 36:700-704
6. Chinnery PF, Walls TJ, Hanna MG et al (2002) Normokalemic periodic paralysis revisited: does it exist? Ann Neurol 52(2):251-252
7. Green DS, Hayward LJ, George AL Jr et al (1997) A proposed mutation, Val781Ile, associated with hylperkalemic periodic paralasis and cardiac dysrhythmia is a benign polymorphism. Ann Neurol 42:253-256
8. Gross E, Arnord G, Gorttle J et al (1999) A comparison of BRAC1 mutation analysis by direct sequencing, SSCP, and DHPLC. Hum Genet 8(3):413-423
9. Hayward LJ, Brown RH, Cannon SC (1997) Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys J 72:1204-1219
10. Hayward LJ, Sandoval GM, Cannon SC (1999) Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 52:1447-1453
11. Mcclatchey AL, Mckenna-Yasek D, Cros D et al (1992) Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet 2:148-152
12. Pearson CM (1964) The periodic paralyses: differential feature and pathological observations in permanent myopathic weakness. Brain 87:341-353
13. Ptacek LJ, George AL Jr, Griggs RC et al (1991) Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67:1021-1027
14. Reinhardt R, Kenneth R, Lehmann-Horn F (1993) Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 50:1241-1248
15. Rojas CV, Wang J, Schwartz LS et al (1991) A Met-to-Val mutation in the skeletal muscle sodium channel α-subunit in hyperkalemic periodic paralysis. Nature 354:387-389
16. Vicart S, Sternberg D, Fournier E et al (2004) New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 63(11):2120-2127
17. Wagner S, Lerche H, Michovic N et al (1997) A novel sodium channel mutation causing a hyperkalamic paralytic and paramyotonic syndrome with reduced penetrance. Neurology 49:1018-1025