Periodic Paralysis
HYPERKALEMIC FAMILIAL PERIODIC PARALYSIS
... Tracings of electrocardiograms (lead V4) in patients with hyperkalemic familial periodic paralysis before and during spontaneous attacks of paralysis and after disappearance of symptoms [r] ...
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The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis
... as periodic paralysis, ventricular ectopy, and dysmorphic features ...by periodic paralysis. Periodic paralysis occurs in ATS independent of blood potassium concentration, but ...
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Atypical periodic paralysis and myalgiaA novel RYR1 phenotype
... The skeletal muscle ryanodine receptor (RYR1) gene enc- odes the principal sarcoplasmic reticulum calcium release channel with a crucial role in excitation-contraction coupling. Mutations in RYR1 are the most common ...
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THYROTOXIC PERIODIC PARALYSIS: DIAGNOSIS, MANAGEMENT AND ROLE OF PROPRANOLOL IN TREATMENT
... during paralysis in patients with thyrotoxic periodic paralysis (TPP) and may contribute to neuromuscular ...muscle paralysis and hypokalemia due to a massive intracellular shift of ...
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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
... Periodic paralysis (PP) is characterized by episodes of muscle weakness that occur at irregular intervals due to skeletal muscle ion channelopathies. This highly hetero- geneous group of muscle diseases can ...
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An atypical presentation of high potassium renal secretion rate in a patient with thyrotoxic periodic paralysis: a case report
... Background: Hypokalemia is one of the most common clinical electrolyte imbalance problems, and thyrotoxic periodic paralysis (TPP) is a leading cause of presentation to the emergency department. Low renal ...
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Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis
... of periodic paralysis (PP) belong to a group of skeletal muscle disorders characterized by episodes of muscle paralysis, accompanied by decreased (hypoPP) or increased (hyperPP) serum potassium ...
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Impairment of skeletal muscle adenosine triphosphate–sensitive K+ channels in patients with hypokalemic periodic paralysis
... The adenosine triphosphate (ATP)–sensitive K + (K ATP ) channel is the most abundant K + channel active in the skeletal muscle fibers of humans and animals. In the present work, we demonstrate the involvement of the ...
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A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
... 19. Hamill, O.P., Marty, A., Neher, E., Sakmann, B., and Sigworth, F.J. 1981. Improved patch-clamp techniques for high-resolution current record- ing from cells and cell-free membrane patches. Pflugers Arch. 391:85–100. ...
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Nonfamilial Hypokalemic Periodic Paralysis and Thyrotoxicosis in a 16-Year-Old Male
... This case demonstrates the value and practicality of a computerized search of the literature in a private office for information regarding unusual problems. The computer search yielded 116 abstracts related to ...
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Clinical Profile of Hypokalemic Periodic Paralysis
... secondary periodic paralysis, but more often in the former than in the ...acute paralysis (Klein et al 1960, Mc Ardle 1963 Samaha 1965, Resnick & Engel ...
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A sodium channel knockin mutant (NaV1 4 R669H) mouse model of hypokalemic periodic paralysis
... results from a transient failure of muscle fiber excitability. Mutations in the genes encoding a calcium channel (Ca V 1.1) and a sodium channel (Na V 1.4) have been identified in HypoPP families. Mutations of Na V 1.4 ...
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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
... CACNA1S and SCN4A encode the human skeletal muscle α1-subunit of a dihydropyridine-sensitive calcium channel and the α-subunit of a sodium channel, respect- ively [7,8]. Previous studies have linked mutations in these ...
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STUDIES IN DISORDERS OF MUSCLE VII CLINICAL MANIFESTATIONS AND INHERITANCE OF A TYPE OF PERIODIC PARALYSIS WITHOUT HYPOPOTASSEMIA
... Furthermore, the levels of serum potassium found during attacks in patients with periodic paralysis usually have not been as low as those observed in patients who do not carry this genet[r] ...
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Case Report The clinical characteristics of CACNA1S R528H mutation in a Chinese family with hypokalemic periodic paralysis
... Abstract: Familial hypokalemic periodic paralysis (FHPP) is an autosomal dominant skeletal muscle ion channelo- pathy. The most common mutations responsible for FHPP lie on CACNA1S and SCN4A. Few cases were ...
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Study of incidence and prevalence of hypokalemic periodic paralysis
... Hypokalemic periodic paralysis (HPP) is a rare autosomal dominant channelopathy characterised by muscle weakness or paralysis when there is a fall of potassium level in the ...
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Case of Thyrotoxic Periodic Paralysis in a Caucasian Male and Review of Literature
... Hypokalemic paralysis can occur as a deficiency due to excess loss of potassium, or in a periodic form caused by intracellular movement of potassium (hypokalemic periodic paralysis ...
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DIAGNOSTICATION OF HYPERKALEMIC PERIODIC PARALYSIS IN HORSES
... Hyperkalemic periodic paralysis (HYPP) is a muscle disease which has been first reported in 1985 in the USA, in a group of 4 horses with episodic weakness associated with intermittent serum ...
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A CLINICAL REVIEW ON: HYPOKALEMIC PERIODIC PARALYSIS-DIAGNOSIS AND TREATMENT
... Hypokalemic periodic paralysis is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood (primarily due to defect ...
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Etiological and Metabolic Profile Hypokalemic Periodic Paralysis
... In our series 7 patients had features of Gitelman’s syndrome and two had features of classic Bartter syndrome. Mean age in our series is 41 yrs with 6 males and three females. In Lin SH et al series there are 6 patients ...
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