scholarly journals Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis

2020 ◽  
Author(s):  
Mario Bautista‑medina ◽  
Hugo Gallardo‑blanco ◽  
Laura Martinez‑garza ◽  
Ricardo Cerda‑flores ◽  
Fernando Lavalle‑gonzalez ◽  
...  
Keyword(s):  
Association Study ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Thyrotoxic Hypokalemic Periodic Paralysis ◽  
Mexican Patients

scholarly journals A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis

2012 ◽  
Vol 57 (5) ◽  
pp. 301-304 ◽  
Author(s):  
Wallaya Jongjaroenprasert ◽  
Theerawut Phusantisampan ◽  
Surakameth Mahasirimongkol ◽  
Taisei Mushiroda ◽  
Nattiya Hirankarn ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Periodic Paralysis ◽  
Genome Wide Association ◽  
Hypokalemic Periodic Paralysis ◽  
Genome Wide ◽  
A Genome ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

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.

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil

2021 ◽  
Vol 21 ◽  
Author(s):  
Cossi Y. Gbefon ◽  
Carla P. S. Sobral ◽  
Adriana Caldas ◽  
Viviane C. C. Rocha ◽  
Rossana S. S. Azulay ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Point Mutations ◽  
Genetic Alterations ◽  
Periodic Paralysis ◽  
The Other ◽  
Care Hospital ◽  
Hypokalemic Periodic Paralysis ◽  
Pathogenic Potential ◽  
Molecular Abnormalities ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

Background: Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare neuromuscular disease characterized by recurrent episodes of skeletal muscle weakness associated with hypokalemia. Alterations in protein-encoding genes that are part of ion channels seem to be related to the development of this disease. However, the pathogenic potential of some variants in these genomic regions is not yet fully understood. The aim of this study was to screen genetic alterations in regions coding for calcium (cav1.1), sodium (nav1.4), and potassium (Kir2.6) channels, evaluating its impact on the phenotype of patients with THPP. Method: Four patients with a diagnosis of THPP followed by the Endocrinology Service of the University Hospital of the Federal University of Maranhão (Brazil)were investigated for the presence of molecular abnormalities in CACNA1S, SCN4A, and KCNJ18 genes. Result: The KCNJ18 analysis revealed at least one polymorphic variant in each patient. Considering the haplotypic classification of R39Q, R40H, A56E, and I249V variants, two cases were named Kir2.6_RRAI and the other two patients were named Kir2.6_QHEV. No patient had point mutations in the regions evaluated for CACNA1S and SCN4A genes. Conclusion: The identification of the Kir2.6_RRAI and Kir2.6_QHEV haplotypes reinforces the existence of two main haplotypes involving these four loci of the KCNJ18gene. On the other hand, point mutations in CACNA1S, SCN4A, and KCNJ18 genes do not seem to be the main mechanism of pathogenesis of THPP, indicating that many questions about this topic still remain unclear. So, the diagnosis of this rare disorder should still be based on clinical and biochemical aspects presented by the patient.

Thyrotoxic hypokalemic periodic paralysis

2000 ◽  
Vol 2000 (2) ◽  
pp. 25
Author(s):  
E. H. Al Khaledy ◽  
N. Ashour ◽  
S. Al Mutairi
Keyword(s):  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Thyrotoxic Hypokalemic Periodic Paralysis

Thyrotoxic Hypokalemic Periodic Paralysis: Case report

2015 ◽  
Vol 4 (2) ◽  
pp. 161-163
Author(s):  
Hacer Şen ◽  
Halil Murat Şen ◽  
Emine Binnetoğlu ◽  
Gökhan Erbağ ◽  
Fahri Güneş ◽  
...  
Keyword(s):  
Case Report ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Thyrotoxic Hypokalemic Periodic Paralysis
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