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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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A case report of a MODY 10 family presenting as hypokalemic periodic paralysis

Chung-hua nei kʿo tsa chih, 2024-07, Vol.63 (7), p.693

2024

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Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport

Muscle & nerve, 2019-09, Vol.60 (3), p.311-314

2019

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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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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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Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Journal of Pediatric Endocrinology and Metabolism, 2019-12, Vol.32 (12), p.1385-1389

2019

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Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

Muscle & nerve, 2014-09, Vol.50 (3), p.327-332

2014

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The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis

Channels (Austin, Tex.), 2021-01, Vol.15 (1), p.20-30

2021

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Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

Muscle & nerve, 2013-01, Vol.47 (1), p.41-45

2013

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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1175-n/a

2020

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

Neurology, 2004-12, Vol.63 (11), p.2120-2127

2004

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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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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.1932-1932

1999

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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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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

Journal of human genetics, 2009-11, Vol.54 (11), p.660-664

2009

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A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

The journal of clinical endocrinology and metabolism, 2002-11, Vol.87 (11), p.4881-4884

2002

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Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis

Molecular medicine reports, 2015-10, Vol.12 (4), p.6267-6274

2015

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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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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

Journal of molecular medicine (Berlin, Germany), 2005-03, Vol.83 (3), p.203-208

2005

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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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A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance

Journal of molecular neuroscience, 2012-02, Vol.46 (2), p.378-383

2012

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Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

Muscle & nerve, 2008-01, Vol.37 (1), p.120-124

2008

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The exercise test as a monitor of disease status in hypokalaemic periodic paralysis

Journal of neurology, neurosurgery and psychiatry, 2004-03, Vol.75 (3), p.497-499

2004

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

A case report of a MODY 10 family presenting as hypokalemic periodic paralysis

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport

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

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

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

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

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

Hypokalemic periodic paralysis: a pedigree with eight cases

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis

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

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

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

A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

The exercise test as a monitor of disease status in hypokalaemic periodic paralysis

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