scholarly journals Familial Periodic Paralyses

2019 ◽  
Author(s):  
Keyword(s):  
Periodic Paralyses

Periodic paralyses and myotonias

1997 ◽  
Vol 103 (1) ◽  
pp. 28-29
Author(s):  
F Lehmann-Horn
Keyword(s):  
Periodic Paralyses

scholarly journals A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

2002 ◽  
Vol 87 (11) ◽  
pp. 4881-4884 ◽  
Author(s):  
Magnus R. Dias Da Silva ◽  
Janete M. Cerutti ◽  
Liliane A. T. Arnaldi ◽  
Rui M. B. Maciel
Keyword(s):  
Direct Sequencing ◽  
Genetic Defect ◽  
Sporadic Case ◽  
Ionic Channel ◽  
Periodic Paralysis ◽  
Resting Membrane Potential ◽  
Hypokalemic Periodic Paralysis ◽  
Dominant Disease ◽  
Periodic Paralyses ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

Abstract Hypokalemic Periodic Paralyses comprise diverse diseases characterized by acute and reversible attacks of severe muscle weakness, associated with low serum potassium. The most common causes are Familial Hypokalemic Periodic Paralysis (FHypoKPP), an autosomal dominant disease, and Thyrotoxic Hypokalemic Periodic Paralysis (THypoKPP), secondary to thyrotoxicosis. Symptoms of paralysis are similar in both diseases, distinguished by thyrotoxicosis present in THypoKPP. FHypoKPP is caused by mutations in ionic channel genes calcium (CACN1AS), sodium (SCN4A) and potassium (KCNE3). Since both diseases are similar, we tested the hypothesis that THypoKPP could carry the same mutations described in FHypoKPP, being the paralysis a genetically conditioned complication of thyrotoxicosis. In 15 patients with THypoKPP, using target-exon PCR, CSGE screening, and direct sequencing, we excluded known mutations in CACN1AS and SCN4A genes. On the other hand, we were able to identify the R83H mutation in the KCNE3 gene in one sporadic case of THypoKPP, a man who had been asymptomatic until developing thyrotoxicosis caused by Graves’ disease; we confirmed the disease-causing mutation in 2 of 3 descendants. R83H was recently found in two FHypoKPP unrelated families, in which the mutant decreased outward potassium flux, resulting in a more positive resting membrane potential. We, therefore, identified the first genetic defect in THypoKPP, a mutation in the KCNE3 gene.

Muscle fiber conduction velocity in situ in hypokalemic periodic paralyses

2009 ◽  
Vol 96 (4) ◽  
pp. 229-235 ◽  
Author(s):  
A. Cruz-Martínez ◽  
J. Arpa
Keyword(s):  
Conduction Velocity ◽  
Muscle Fiber ◽  
Muscle Fiber Conduction Velocity ◽  
Periodic Paralyses

Chapter 23 Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperthermia

2003 ◽  
pp. 457-483 ◽  
Author(s):  
Frank Lehmann-Horn ◽  
Holger Lerche ◽  
Karin Jurkat-Rott
Keyword(s):  
Skeletal Muscle ◽  
Malignant Hyperthermia ◽  
Periodic Paralyses ◽  
Skeletal Muscle Channelopathies

Electrophysiology of Myotonias and Periodic Paralyses

1990 ◽  
pp. 641-645
Author(s):  
R. Rüdel
Keyword(s):  
Periodic Paralyses

The Periodic Paralyses—Current Therapy

2006 ◽  
pp. 403-407
Author(s):  
Barbara E. Shapiro ◽  
Robert L. Ruff
Keyword(s):  
Current Therapy ◽  
Periodic Paralyses

scholarly journals Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

2020 ◽  
Vol 11 ◽  
Author(s):  
Lorenzo Maggi ◽  
Raffaella Brugnoni ◽  
Eleonora Canioni ◽  
Paola Tonin ◽  
Veronica Saletti ◽  
...  
Keyword(s):  
Large Cohort ◽  
Molecular Spectrum ◽  
Periodic Paralyses

The familial periodic paralyses and nondystrophic myotonias

1998 ◽  
Vol 105 (1) ◽  
pp. 58-70 ◽  
Author(s):  
Louis Ptáček
Keyword(s):  
Periodic Paralyses

Paroxysmal muscle weakness - the familial periodic paralyses

2006 ◽  
Vol 253 (11) ◽  
pp. 1391-1398 ◽  
Author(s):  
Karin Jurkat-Rott ◽  
Frank Lehmann-Horn
Keyword(s):  
Muscle Weakness ◽  
Periodic Paralyses

The Periodic Paralyses

1992 ◽  
Vol 27 (11) ◽  
pp. 123-137 ◽  
Author(s):  
Robert C. Griggs ◽  
Louis J. Ptáček
Keyword(s):  
Periodic Paralyses
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