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Prevalence study of genetically defined skeletal muscle channelopathies in England

Neurology, 2013-04, Vol.80 (16), p.1472

2013

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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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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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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004-11, Vol.63 (9), p.1647

2004

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A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

The Journal of general physiology, 2007-07, Vol.130 (1), p.11-20

2007

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Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis

The Journal of general physiology, 2014-08, Vol.144 (2), p.137-145

2014

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Brain (London, England : 1878), 2001-06, Vol.124 (6), p.1091-1099

2001

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Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis

The Journal of general physiology, 2008-10, Vol.132 (4), p.447-464

2008

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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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New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

Neurology, 2004-12, Vol.63 (11), p.2120

2004

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Genotype and Phenotype Analysis of Patients With Sporadic Periodic Paralysis

The American journal of the medical sciences, 2012-04, Vol.343 (4), p.281-285

2012

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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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A novel sodium channel mutation in a family with hypokalemic periodic paralysis

Neurology, 1999-12, Vol.53 (9), p.1932

1999

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An important piece has been placed in the puzzle of hypokalemic periodic paralysis

Neurology, 2011-05, Vol.76 (19), p.1614

Ruff, Robert L

2011

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The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

The Journal of neuroscience, 2000-12, Vol.20 (23), p.8610-8617

2000

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Getting a charge out of periodic paralysis?

Neurology, 2009-05, Vol.72 (18), p.1540

Cannon, Stephen C

2009

Volltextzugriff (PDF)

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

Annals of neurology, 2001-09, Vol.50 (3), p.417-420

2001

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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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Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

Neurology, 2003-10, Vol.61 (7), p.914

2003

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Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia

Muscle & nerve, 2004-07, Vol.30 (1), p.114-117

2004

Volltextzugriff (PDF)

Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy?

The Journal of general physiology, 2007-07, Vol.130 (1), p.1-5

2007

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The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis

Journal of Korean Medical Science, 2007, 22(6), , pp.946-951

2007

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Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis

Neurology, 2003-09, Vol.61 (6), p.857

2003

Volltextzugriff (PDF)

Absence of Ion Channels CACN1AS and SCN4A Mutations in Thyrotoxic Hypokalemic Periodic Paralysis

Thyroid (New York, N.Y.), 2004-03, Vol.14 (3), p.187-190

2004

Volltextzugriff (PDF)

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Prevalence study of genetically defined skeletal muscle channelopathies in England

Gating pore current in an inherited ion channelopathy

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

Correlating phenotype and genotype in the periodic paralyses

A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis

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

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

Genotype and Phenotype Analysis of Patients With Sporadic Periodic Paralysis

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

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

An important piece has been placed in the puzzle of hypokalemic periodic paralysis

The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

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

Getting a charge out of periodic paralysis?

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

Mutation screening in Chinese hypokalemic periodic paralysis patients

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia

Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy?

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis

Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis

Absence of Ion Channels CACN1AS and SCN4A Mutations in Thyrotoxic Hypokalemic Periodic Paralysis

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