Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan
Frontiers in Neurology, 2023 IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119 ...
Jun-Hui Yuan +8 more
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Acute Flaccid Quadriparesis: An Uncommon Presentation of Common Disease
Indian Journal of Medical Specialities, 2022 Acute flaccid quadriparesis is a common presentation to the emergency department with multiple etiologies such as paralytic snakebite, Guillain–Barre Syndrome, and periodic paralysis.
Vishal Chandra Sharma +3 more
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Annals of Indian Academy of Neurology, 2012 Objective: There is paucity of reports on thyrotoxic periodic paralysis (TPP) from India. We report the patients with TPP and compare them with idiopathic hypokalemic periodic paralysis (IHPP).
J Kalita +4 more
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Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]
, 2014 IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna +11 more
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A Case of Thyrotoxic Periodic Paralysis Associated with Transient Thyrotoxicosis [PDF]
Kosin Medical Journal, 2012 Thyrotoxic periodic paralysis is an acute muscle weakness of the limbs associated with hypokalemia. It can occur with any form of thyrotoxicosis. Thyrotoxic periodic paralysis associated with transient thyrotoxicosis due to thyroiditis is very rare.
Hye Jung Kwon +5 more
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A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy [PDF]
, 2014 BACKGROUND: Acute hypokalaemic paralysis is characterised by acute flaccid muscle weakness and has a complex aetiological spectrum. Herein we report, for the first time, a case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic ...
Bo Yang +4 more
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Premenstrual periodic paralysis [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1981 A 17-year-old girl suffered from episodes of flaccid paralysis during each menstrual cycle. No relevant changes were found in potassium concentrations in serum or erythrocytes, nor in the values of pituitary, ovarian, adrenal or thyroid hormones. Acetazolamide administration prevented the attacks.
I, Sarova-Pinhas, J, Braham, A, Shalev
openaire +2 more sources
Thyrotoxic periodic paralysis: a case study and review of the literature
Journal of Community Hospital Internal Medicine Perspectives, 2017 Acute hypokalemic paralysis is a rare cause of acute weakness. Morbidity and mortality associated with unrecognized disease can occur and include respiratory failure and possibly death.
Marcelle Meseeha +3 more
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Acta Neuropathologica Communications, 2021 Hypokalemic periodic paralysis is an autosomal dominant, rare disorder caused by variants in the genes for voltage-gated calcium channel CaV1.1 (CACNA1S) and NaV1.4 (SCN4A).
Thomas O. Krag +3 more
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Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels. [PDF]
, 2018 Mutations of CaV1.1, the pore-forming subunit of the L-type Ca2+ channel in skeletal muscle, are an established cause of hypokalemic periodic paralysis (HypoPP).
Cannon, Stephen C +3 more
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