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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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Hypokalemic periodic paralysis: a 3-year follow-up study

Journal of neurology, 2023-12, Vol.270 (12), p.6057-6063

2023

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Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene

Journal of neuropathology and experimental neurology, 2020-12, Vol.79 (12), p.1276-1292

2020

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Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

Journal of neuropathology and experimental neurology, 2020-10, Vol.79 (10), p.1127-1129

2020

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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Journal of neurology, 2019-07, Vol.266 (7), p.1623-1632

2019

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Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

The Journal of biological chemistry, 2011-08, Vol.286 (31), p.27425-27435

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

Journal of pediatric endocrinology & metabolism : JPEM, 2019-12, Vol.32 (12), p.1385

2019

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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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Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.49-52

2016

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

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

2004

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Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients

Neurological research (New York), 2015-03, Vol.37 (3), p.246-252

2015

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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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The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis

BMC neurology, 2015-03, Vol.15 (1), p.38-38, Article 38

2015

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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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A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy

BMC urology, 2014-11, Vol.14 (1), p.96-96, Article 96

2014

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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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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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Prevalence study of genetically defined skeletal muscle channelopathies in England

Hypokalemic periodic paralysis: a 3-year follow-up study

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene

Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

Correlating phenotype and genotype in the periodic paralyses

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

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

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

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

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

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

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

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

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

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

Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients

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

The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis

Genotype and Phenotype Analysis of Patients With Sporadic Periodic Paralysis

A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy

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

Hypokalemic periodic paralysis: a pedigree with eight cases

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