Normokalemic periodic paralysis is not a distinct disease

Song, Young-Wha; Kim, Sung-Jo; Heo, Tae‐Hwe; Kim, Manho; Kim, June-Bum

doi:10.1002/mus.23441

Cited by 11 publications

(9 citation statements)

References 11 publications

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“…In addition, more and more findings supported the notion that normoKPP was not a distinct disease and normokalemia could occur during attacks in patients with hyperPP. 9 However, low blood potassium level was observed in our patient who carries a mutation at codon 675 of the gene SCN4A. The patient exhibited the characteristic clinical and laboratory features of hypoPP, including hypokalemia during attacks and effective remission of weakness after supplying potassium.…”

Section: Dicussionmentioning

confidence: 53%

“…Recently, a number of studies [7][8][9] have revealed that mutation R675Q in SCN4A mainly caused 2 kinds of disease: hyperPP and normoKPP (normokalemic periodic paralysis). In addition, more and more findings supported the notion that normoKPP was not a distinct disease and normokalemia could occur during attacks in patients with hyperPP.…”

Section: Dicussionmentioning

confidence: 99%

“…Weakness is precipitated not only by a carbohydrate load or rest after exercise but also by cortisone, coldness season alteration and potassium supplements. [7][8][9] The latter was relatively rare predisposition in hypokalemic periodic paralysis. All patients had periodic paralysis and never exhibit myotonia in their lifetime.…”

Section: Dicussionmentioning

confidence: 99%

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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Liu

Huang²,

Luan³

et al. 2015

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Section: Dicussionmentioning

confidence: 53%

Section: Dicussionmentioning

confidence: 99%

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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Liu

Huang²,

Luan³

et al. 2015

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“…The symptoms usually last for minutes to hours and are triggered by fasting, ingestion of potassium-containing foods, or vigorous exercise. Transient normokalemia, or even hypokalemia, can be measured during attacks, thus making the disease occasionally challenging to diagnose8). Gain-of-function mutations in the skeletal muscle voltage-gated sodium channel gene, SCN4A , impair channel inactivation and cause a persistent inward sodium current, which leads to increased membrane excitability and myotonia or reduced excitability with flaccid paralysis depending on the degree of membrane depolarization.…”

Section: Channelopathies In the Nervous Systemmentioning

confidence: 99%

Channelopathies

2014

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Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

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“…Mutation screening was performed by sequencing the entire coding region of the CACNA1S, SCN4A, and KCNJ2 genes, as described elsewhere15,16). The clinical details of some patients have been reported previously2,16,17,18). Of these, we selected the three who presented with the most obvious symptoms of HOKPP in terms of both severity and frequency of paralytic attacks.…”

Section: Methodsmentioning

confidence: 99%

The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis

Kim

Kang

et al. 2014

Korean J Pediatr

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PurposeFamilial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding of this mechanism by investigating the expression of calcium-activated potassium (KCa) channel genes in HOKPP patients.MethodsWe measured the intracellular calcium concentration with fura-2-acetoxymethyl ester in skeletal muscle cells of HOKPP patients and healthy individuals. We examined the mRNA and protein expression of KCa channel genes (KCNMA1, KCNN1, KCNN2, KCNN3, and KCNN4) in both cell types.ResultsPatient cells exhibited higher cytosolic calcium levels than normal cells. Quantitative reverse transcription polymerase chain reaction analysis showed that the mRNA levels of the KCa channel genes did not significantly differ between patient and normal cells. However, western blot analysis showed that protein levels of the KCNMA1 gene, which encodes KCa1.1 channels (also called big potassium channels), were significantly lower in the membrane fraction and higher in the cytosolic fraction of patient cells than normal cells. When patient cells were exposed to 50 mM potassium buffer, which was used to induce depolarization, the altered subcellular distribution of BK channels remained unchanged.ConclusionThese findings suggest a novel mechanism for the development of hypokalemia and paralysis in HOKPP and demonstrate a connection between disease-associated mutations in calcium/sodium channels and pathogenic changes in nonmutant potassium channels.

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Normokalemic periodic paralysis is not a distinct disease

Abstract: Our findings support the notion that normoKPP is not a distinct disease.

Cited by 11 publications

References 11 publications

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Channelopathies

The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis

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