Hyperkalemic periodic paralysis and paramyotonia congenita - A novel sodium channel mutation - [6]

Journal of Neurology

Volumn 248, Issue 11, 2001, Pages 1003-1004

  Okuda, Shiho ^a   Kanda, Fumio ^a   Nishimoto, Keisuke ^a   Sasaki, Ryogen ^b   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; METHIONINE; POTASSIUM ION; SODIUM CHANNEL; VALINE;

ADULT; AMINO ACID SUBSTITUTION; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; FAMILY HISTORY; HUMAN; LETTER; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOTONIA; PERIODIC PARALYSIS; POINT MUTATION; PRIORITY JOURNAL; PROVOCATION TEST; SKELETAL MUSCLE; STRUCTURAL GENE; THOMSEN DISEASE;

ADULT; HUMANS; MALE; MYOTONIC DISORDERS; PARALYSIS, HYPERKALEMIC PERIODIC; PEDIGREE; POINT MUTATION; SODIUM CHANNELS;

EID: 0035788438     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150170059     Document Type: Letter

References (8)

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4. Jurkat-Rott K, Mitrovic N, Hang C, et al. (2000) Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc. Natl. Acad. Sci. USA 97: 9549-9554
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