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Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Cell, 2010-01, Vol.140 (1), p.88-98

2010

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Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Neuromuscular disorders : NMD, 2023-03, Vol.33 (3), p.270-273

2023

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Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Journal of the neurological sciences, 2020-05, Vol.412, p.116795-116795, Article 116795

2020

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Quality of life in hypokalemic periodic paralysis - a survey

Neuromuscular disorders : NMD, 2024-08, Vol.41, p.24-28

2024

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Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

Journal of the neurological sciences, 2020-05, Vol.412, p.116794-116794, Article 116794

Cannon, Stephen C.

2020

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The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Neuromuscular disorders : NMD, 2015-12, Vol.25 (12), p.955-958

2015

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Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis

Clinica chimica acta, 2012-12, Vol.414, p.105-108

2012

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A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

Journal of the neurological sciences, 2011-10, Vol.309 (1), p.9-11

2011

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Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels

Biochimie, 2011-12, Vol.93 (12), p.2080-2086

2011

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Gating defects of a novel Na + channel mutant causing hypokalemic periodic paralysis

Biochemical and biophysical research communications, 2006-09, Vol.348 (2), p.653-661

2006

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Glucocorticoids may trigger attacks in several types of periodic paralysis

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.217-219

2009

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Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition

Clinical neurology and neurosurgery, 2012-07, Vol.114 (6), p.801-802

2012

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Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+ -depleted rats

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.74-80

2008

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L-type Ca2+ channels in Ca2+ channelopathies

Biochemical and biophysical research communications, 2004-10, Vol.322 (4), p.1341-1346

2004

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Mutation screening in Chinese hypokalemic periodic paralysis patients

Molecular genetics and metabolism, 2006-04, Vol.87 (4), p.359-363

2006

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Relapses and remissions of hypokalaemic periodic paralysis and multiple sclerosis in the same patient

Clinical neurology and neurosurgery, 2011-10, Vol.113 (8), p.683-685

2011

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Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family

Neuromuscular disorders : NMD, 2007-05, Vol.17 (5), p.419-422

2007

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Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation

Neuromuscular disorders : NMD, 2004-11, Vol.14 (11), p.727-731

2004

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Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis

Seizure (London, England), 2000-10, Vol.9 (7), p.493-497

2000

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Ion-channel related muscular diseases

La revue de medecine interne, 1999-09, Vol.20 (9), p.774-780

Fontaine, B

1999

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Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis

The Journal of emergency medicine, 2017-04, Vol.52 (4), p.e133-e137

Thornton, Matthew D., MD

2017

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A Novel Kir2.6 Mutation Associated with Hypokalemic Periodic Paralysis

Clinical neurophysiology, 2016-06, Vol.127 (6), p.2503-2508

2016

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Voltage-gated calcium channels in genetic diseases

Biochimica et biophysica acta, 2006-11, Vol.1763 (11), p.1169-1174

2006

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Cell, 1994-06, Vol.77 (6), p.863-868

1994

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Reduced expression and abnormal localization of the K(ATP) channel subunit SUR2A in patients with familial hypokalemic periodic paralysis

Biochemical and biophysical research communications, 2010-01, Vol.391 (1), p.974-978

2010

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Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Quality of life in hypokalemic periodic paralysis - a survey

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels

Gating defects of a novel Na + channel mutant causing hypokalemic periodic paralysis

Glucocorticoids may trigger attacks in several types of periodic paralysis

Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition

Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+ -depleted rats

L-type Ca2+ channels in Ca2+ channelopathies

Mutation screening in Chinese hypokalemic periodic paralysis patients

Relapses and remissions of hypokalaemic periodic paralysis and multiple sclerosis in the same patient

Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family

Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis

Ion-channel related muscular diseases

Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis

A Novel Kir2.6 Mutation Associated with Hypokalemic Periodic Paralysis

Voltage-gated calcium channels in genetic diseases

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Reduced expression and abnormal localization of the K(ATP) channel subunit SUR2A in patients with familial hypokalemic periodic paralysis

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