Periodic paralysis and voltage-gated ion channels

Fontaine, Bertrand; Lapie, P.; Plassart, E; Tabti, Nacira; Nicole, Sophie; Reboul, J; Rime-Davoine, Claire-Sophie

doi:10.1038/ki.1996.2

Cited by 55 publications

(36 citation statements)

References 96 publications

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“…The preliminary electrophysiological studies of the HypoPP mutations have suggested a loss of function as the major alteration of the mutated Ca 2+ channels (for a recent review, see [24,25]). Our study indicates that this phenomenon relies directly to a reduced Ca 2+ channel activity of (~1S-R52SH, independently of a substantial change in electrophysiological parameters.…”

Section: Resultsmentioning

confidence: 99%

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells

et al. 1996

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Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease which has been linked to point mutations in the skeletal muscle L-type calcium channel cq subunit (~ls). Here, we have introduced one of the point mutations causing HypoPP (R528H) into cDNA of the rabbit Cqs. Expression of either the wild-type ~tsor the mutant R528H Cqs (~ls-Rszsn) subunits was obtained in mouse Ltk cells using a selectable expression vector. The Cqs-Rs28n subunit led to the expression of functional L-type Ca z+ channels. Corresponding whole-cell Ba 2+ currents exhibit very slow activation and inactivation kinetics, typical for recombinant skeletal Ca 2+ channel currents. Voltage-dependent activation and inactivation properties were similar for ~ts-and ~IS-RS2Sn, as well as their sensitivity to the dihydropyridine agonist Bay K 8644. Differences in Cqs-and ~ls-Rs28n-directed channels reside in the Ba 2+ current density, which was significantly reduced 3.2 fold in cells expressing ~lS-RS2Sn It was concluded that the R528H mutation of Cqs results in minor differences in the electrophysiological properties but significantly reduces the whole-cell Ca z÷ channel current in its amplitude.

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Section: Resultsmentioning

confidence: 99%

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells

et al. 1996

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“…The age of onset of hypoPP is within the second decade of life: 60% of patients develop the disease before the age of 16, although younger or later onsets have been reported [3]. The patient of this case report started symptoms when she was 9 year-old.…”

Section: Case Reportmentioning

confidence: 74%

“…Serum potassium levels are usually normal in HypoPP patients at the baseline [10]. Typically, attacks occur at night and the patient awakes paralyzed [3]. Attacks commonly occur several hours after strenuous exercise or a carbohydrates rich meals.…”

Section: Case Reportmentioning

confidence: 99%

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Familial Hypokalemic Periodic Paralysis with Myotonic Phenomenon : Case Report

Nm¹,

Pellegrinelli²,

Dg³

et al. 2017

Journal of Neurology and Neurological Disorders

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Hypokalemic Periodic Paralysis (HypoPP) is a rare disease whereby voltage-gated ion channels are mutated and it is characterized by episodic flaccid paralysis concomitant to variations in blood potassium levels. Attacks usually happen after exercise or high carbohydrate meals. The diagnosis is made with laboratory data wich helps to exclude other causes and confirm low potassium serum or myotonia on eletromyography (EMG). The case report shows a patient who had severe symptoms of HypoPP and had laboratory data of low potassium serum during attacks and EMG with features more common in Hyperkalemic Periodic Paralysis. It also presented a great reponse to therapeutic treatment with potassium reposition and acetazolamide.

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“…A number of mutations in either the CACNA1S or SCN4A genes that code for calcium and sodium channels have been identified 7. It is proposed that defective leaky channels allow an increased influx of potassium into skeletal muscle cells, affecting cell depolarisation and resulting in muscle weakness, although the exact mechanism of how this occurs is not fully understood 8. Serum potassium levels are low during the onset of symptoms, due to the movement of potassium into the muscle cell.…”

Section: Discussionmentioning

confidence: 99%

An unexpected cause of proximal myopathy

Townsend

Smith²,

Harris³

et al. 2012

BMJ Case Reports

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A 25-year-old man presented with a short history of profound proximal muscle weakness such that he was unable to stand. Laboratory investigations demonstrated hypokalaemia and mildly elevated serum creatine kinase. He reported a history of 8-10 episodes of less severe weakness in the preceding 8 years and his mother reported similar symptoms. The combination of weakness and hypokalaemia with a probable family history suggested the diagnosis of hypokalaemic periodic paralysis. He was treated with intravenous and oral potassium supplementation, and regained full power within 24 h. BACKGROUND

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Periodic paralysis and voltage-gated ion channels

Cited by 55 publications

References 96 publications

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells

Familial Hypokalemic Periodic Paralysis with Myotonic Phenomenon : Case Report

An unexpected cause of proximal myopathy

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Periodic paralysis and voltage-gated ion channels

Cited by 55 publications

References 96 publications

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α1S subunit as expressed in mouse L cells

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α1S subunit as expressed in mouse L cells

Familial Hypokalemic Periodic Paralysis with Myotonic Phenomenon : Case Report

An unexpected cause of proximal myopathy

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Product

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Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α_1S subunit as expressed in mouse L cells