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Structural basis for gating pore current in periodic paralysis

Nature (London), 2018-05, Vol.557 (7706), p.590-594

2018

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Voltage-dependent Ca 2+ release is impaired in hypokalemic periodic paralysis caused by Ca V 1.1-R528H but not by Na V 1.4-R669H

American Journal of Physiology: Cell Physiology, 2022-08, Vol.323 (2), p.C478-C485

2022

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Gating pore current in an inherited ion channelopathy

Nature, 2007-03, Vol.446 (7131), p.76-78

2007

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Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.998-1008

2014

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Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Scientific reports, 2019-11, Vol.9 (1), p.17560-11, Article 17560

2019

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A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis

The Journal of clinical investigation, 2011-10, Vol.121 (10), p.4082-4094

2011

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A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family

Zhong hua yi xue za zhi, 2020-12, Vol.100 (45), p.3622-3625

2020

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An atypical Ca V 1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

The Journal of general physiology, 2017-12, Vol.149 (12), p.1061

Cannon, Stephen C

2017

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Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Acta myologica, 2018-09, Vol.37 (3), p.193-203

2018

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Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

The Journal of general physiology, 2010-08, Vol.136 (2), p.225-236

2010

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Persisting fatigue and myalgia as the presenting features in a case of hypokalaemic periodic paralysis

BMJ case reports, 2017-08, Vol.2017, p.bcr-2017-219991

2017

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Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Proceedings of the National Academy of Sciences - PNAS, 2000-08, Vol.97 (17), p.9549-9554

2000

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Hypokalemic periodic paralysis: a pedigree with eight cases

Zhonghua yi xue yi chuan xue za zhi, 2018-06, Vol.35 (3), p.455

2018

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A204E mutation in Na v 1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Scientific reports, 2018-11, Vol.8 (1), p.16681

2018

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Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na V 1.4

Scientific reports, 2018-06, Vol.8 (1), p.9714

2018

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Hereditary hypokaliaemic periodic paralysis in a 13-year-old boy

Ugeskrift for læger, 2014-12, Vol.176 (25A)

2014

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INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

Muscle & nerve, 2010-09, Vol.42 (3), p.315-327

2010

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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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7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

Radiology, 2016-09, Vol.280 (3), p.848

2016

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An unexpected cause of proximal myopathy

BMJ case reports, 2012-06, Vol.2012, p.bcr0220125809

2012

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The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China

Sheng wu yi xue gong cheng xue za zhi, 2011-06, Vol.28 (3), p.547

2011

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A new type of periodic paralysis: Andersen-Tawil syndrome

Bulletin de l'Académie nationale de médecine, 2008-11, Vol.192 (8), p.1551-6; discussion 1556-7

Pouget, Jean

2008

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A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)

Journal of Korean medical science, 2005-02, Vol.20 (1), p.162-165

2005

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Physiology Legacy of leaky channels

Nature (London), 2007-03, Vol.446 (7131), p.32-34

Horn, Richard

2007

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Arg16Gly polymorphism in beta2-adrenergic receptor gene is not associated with thyrotoxic periodic paralysis in Korean male patients with Graves' disease

Clinical endocrinology (Oxford), 2005-05, Vol.62 (5), p.585-589

2005

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Structural basis for gating pore current in periodic paralysis

Voltage-dependent Ca 2+ release is impaired in hypokalemic periodic paralysis caused by Ca V 1.1-R528H but not by Na V 1.4-R669H

Gating pore current in an inherited ion channelopathy

Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis

A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family

An atypical Ca V 1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

Persisting fatigue and myalgia as the presenting features in a case of hypokalaemic periodic paralysis

Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Hypokalemic periodic paralysis: a pedigree with eight cases

A204E mutation in Na v 1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na V 1.4

Hereditary hypokaliaemic periodic paralysis in a 13-year-old boy

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

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

7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

An unexpected cause of proximal myopathy

The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China

A new type of periodic paralysis: Andersen-Tawil syndrome

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)

Physiology Legacy of leaky channels

Arg16Gly polymorphism in beta2-adrenergic receptor gene is not associated with thyrotoxic periodic paralysis in Korean male patients with Graves' disease

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