Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

1994 ◽  
Vol 2 (2) ◽  
pp. 110-124 ◽  
Author(s):  
Emmanuelle Plassart ◽  
Jocelyne Reboul ◽  
Claire-Sophie Rime ◽  
Dominique Recan ◽  
Philippe Millasseau ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Sodium Channel Gene

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1991 ◽  
Vol 30 (6) ◽  
pp. 810-816 ◽  
Author(s):  
G. C. Ebers ◽  
A. L. George ◽  
R. L. Barchi ◽  
S. S. Ting-Passador ◽  
R. G. Kallen ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Adult Muscle ◽  
Sodium Channel Gene

Identification of a Thr-to-Met Mutation in the Skeletal Muscle Sodium Channel Gene in Hyperkalemic Periodic Paralysis of a Japanese Family

1993 ◽  
Vol 707 (1 Molecular Bas) ◽  
pp. 342-345
Author(s):  
KIICHI ARAHATA ◽  
JIANZHOU WANG ◽  
W. GREGORY FEERO ◽  
HIROSHI HAYAKAWA ◽  
KOICHI HONDA ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Japanese Family ◽  
Channel Gene ◽  
Sodium Channel Gene

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

Neurology ◽  
1994 ◽  
Vol 44 (8) ◽  
pp. 1500-1500 ◽  
Author(s):  
L. J. Ptacek ◽  
R. Tawil ◽  
R. C. Griggs ◽  
G. Meola ◽  
P. McManis ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Paramyotonia Congenita ◽  
Myotonia Congenita

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

2001 ◽  
Vol 248 (11) ◽  
pp. 1003-1004 ◽  
Author(s):  
Shiho Okuda ◽  
Fumio Kanda ◽  
Keisuke Nishimoto ◽  
Ryogen Sasaki ◽  
Kazuo Chihara
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Paramyotonia Congenita ◽  
Channel Mutation ◽  
Sodium Channel Mutation

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

Cell ◽  
1992 ◽  
Vol 68 (4) ◽  
pp. 769-774 ◽  
Author(s):  
Andrea I. McClatchey ◽  
Peter Van den Bergh ◽  
Margaret A. Pericak-Vance ◽  
Wendy Raskind ◽  
Christine Verellen ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Temperature Sensitive ◽  
Cytoplasmic Loop ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Loop Region

Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK

Neurology ◽  
2001 ◽  
Vol 57 (7) ◽  
pp. 1323-1325 ◽  
Author(s):  
N. P. Davies ◽  
L. H. Eunson ◽  
M. Samuel ◽  
M. G. Hanna
Keyword(s):  
Sodium Channel ◽  
Gene Mutations ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
The Uk
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