scholarly journals Paramyotonia Congenita without Cold Paralysis

2020 ◽  
Author(s):  
Keyword(s):  
Paramyotonia Congenita

Paramyotonia congenita: From clinical diagnosis toin silicoprotein modeling analysis

2012 ◽  
Vol 54 (5) ◽  
pp. 602-612 ◽  
Author(s):  
Dian K. Nurputra ◽  
Taku Nakagawa ◽  
Yasuhiro Takeshima ◽  
Indra S.K. Harahap ◽  
Satoru Morikawa ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Paramyotonia Congenita ◽  
Modeling Analysis

Successful long-term therapy with flecainide in a family with paramyotonia congenita

2018 ◽  
Vol 89 (11) ◽  
pp. 1232-1234 ◽  
Author(s):  
Chiara Terracciano ◽  
Olimpia Farina ◽  
Teresa Esposito ◽  
Luca Lombardi ◽  
Filomena Napolitano ◽  
...  
Keyword(s):  
Term Therapy ◽  
Paramyotonia Congenita ◽  
Long Term Therapy

scholarly journals A case of paramyotonia congenita in pregnancy

2019 ◽  
Vol 13 (4) ◽  
pp. 192-194
Author(s):  
EK Brooks ◽  
D Schweitzer ◽  
HL Robinson
Keyword(s):  
Skeletal Muscle ◽  
Early Childhood ◽  
Symptom Onset ◽  
Autosomal Dominant ◽  
Limited Information ◽  
Paramyotonia Congenita ◽  
Cold Temperatures ◽  
Voltage Gated ◽  
Successful Case ◽  
In Pregnancy

Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle contractions or cold temperatures. Pregnancy has been reported to increase symptoms of myotonia; however, there is limited information in the literature regarding the possible effects of paramyotonia congenita on pregnancy and labour. We present a successful case of a 20-year-old primigravida with confirmed paramyotonia congenita and review the literature regarding paramyotonia congenita during pregnancy.

scholarly journals Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

1999 ◽  
Vol 518 (2) ◽  
pp. 337-344 ◽  
Author(s):  
Saïd Bendahhou ◽  
Theodore R. Cummins ◽  
Hubert Kwiecinski ◽  
Stephen G. Waxman ◽  
Louis J. Ptácek
Keyword(s):  
Sodium Channel ◽  
Paramyotonia Congenita ◽  
Channel Mutation ◽  
Sodium Channel Mutation

scholarly journals Functional expression of the Ile693Thr Na+channel mutation associated with paramyotonia congenita in a human cell line

1998 ◽  
Vol 507 (3) ◽  
pp. 721-727 ◽  
Author(s):  
Emmanuelle Plassart-Schiess ◽  
Loïc Lhuillier ◽  
Alfred L. George ◽  
Bertrand Fontaine ◽  
Nacira Tabti
Keyword(s):  
Cell Line ◽  
Human Cell ◽  
Functional Expression ◽  
Human Cell Line ◽  
Na Channel ◽  
Paramyotonia Congenita ◽  
Channel Mutation
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