Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis

Paninka, Rolf Matias; Carlos-Lima, Estevão; Lindsey, Susan C.; Kunii, Ilda S.; Silva, Magnus R. Dias da; Arcísio-Miranda, Manoel

doi:10.1016/j.neuroscience.2017.01.019

Cited by 9 publications

(8 citation statements)

References 19 publications

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“…Recent studies have shown that TPP is a channelopathy related to mutations in the KCNJ18 gene encoding Kir2.6, a skeletal muscle‐specific Kir channel protein. Mutant Kir2.6 proteins significantly reduce cell membrane abundance and could interfere with the excitability of skeletal muscle cells 18,19 . TPP is more commonly reported in Asian males, with onset usually in the third decade of life 20,21 .…”

Section: Discussionmentioning

confidence: 99%

Thyrotoxic periodic paralysis in an adolescent male: A case report and literature review

Lawrence

Moore

et al. 2020

Clinical Case Reports

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Thyrotoxic periodic paralysis (TPP) is an uncommon hyperthyroidism-related condition characterized by abrupt onset muscle weakness and hypokalemia resulting from rapid intracellular shift of potassium. TPP is primarily reported in adult males in Asian populations, including Chinese, Japanese, Vietnamese, Filipino, and Korean. 1,2 Its incidence in non-Asian populations such as Caucasians, African Americans, and Hispanics is very low. PTT is very rarely seen in the pediatric population. 3 A number of TPP cases in adults have been reported in Western countries recently. TPP is commonly misdiagnosed in Western countries because of its similarities to familial periodic paralysis. 4 We report a case of an Asian adolescent male presenting with acute-onset paralysis and severe hypokalemia and highlight the importance of recognizing TPP.

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Section: Discussionmentioning

confidence: 99%

Thyrotoxic periodic paralysis in an adolescent male: A case report and literature review

Lawrence

Moore

et al. 2020

Clinical Case Reports

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“…Skeletal muscle ion channelopathies are rare heterogeneous disorders and are caused by mutations in genes encoding sodium channel (SCN4A), chloride channel (CLCN1), calcium channel (CACNA1S), or potassium channel (KCNJ2 and KCNJ18) [1][2][3]. They are characterized by episodic and fluctuating symptoms, exacerbation by environmental factors, and frequently autosomal dominant inheritance patterns.…”

Section: Introductionmentioning

confidence: 99%

Skeletal Muscle Channelopathies

Phillips

Trivedi

2018

Neurotherapeutics

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Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Electrodiagnostic testing is useful in directing the diagnosis, but has several limitations: patient discomfort, time consuming, and significant overlap of findings in muscle channelopathies. Although genetic testing is the gold standard in making a definitive diagnosis, a mutation might not be identified in many patients with a well-supported clinical diagnosis of periodic paralysis. In the recent past, there have been landmark clinical trials in non-dystrophic myotonia and periodic paralysis which are encouraging as they demonstrate the ability of robust clinical research consortia to conduct well-controlled trials of rare diseases.

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“…It is hypothesized that patients with TPP have an underlying channelopathy that is related to mutations in the KCNJ18 gene that encode Kir2.6, a skeletal muscle-specific Kir channel protein. 6,7) Under thyrotoxic conditions, the protein stimulates tissue responsiveness to beta-adrenergic signaling and increases sodium-potassium ATPase activity and drives potassium uptake into cells and results in hypokalemia.…”

Section: Discussionmentioning

confidence: 99%

Persistent Hypokalemic Paralysis in a Patient with Graves’ Disease and Gitelman Syndrome

Jeong

2021

Int J Thyroidol

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Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis

Cited by 9 publications

References 19 publications

Thyrotoxic periodic paralysis in an adolescent male: A case report and literature review

Thyrotoxic periodic paralysis in an adolescent male: A case report and literature review

Skeletal Muscle Channelopathies

Persistent Hypokalemic Paralysis in a Patient with Graves’ Disease and Gitelman Syndrome

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