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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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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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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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Familial hypokalemic periodic paralysis associated with autoimmune thyroiditis

Medicina clinica, 2016-04, Vol.146 (8), p.375

2016

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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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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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Primary periodic paralyses

Acta neurologica Scandinavica, 2008-03, Vol.117 (3), p.145-158

Finsterer, J.

2008

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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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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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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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Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis

European journal of paediatric neurology, 2010-05, Vol.14 (3), p.278-281

2010

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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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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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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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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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V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman

Journal of the Formosan Medical Association, 2015-04, Vol.114 (4), p.377-378

2015

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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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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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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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Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

Journal of medical genetics, 2008-10, Vol.45 (10), p.686-688

2008

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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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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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Getting a charge out of periodic paralysis?

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

Cannon, Stephen C

2009

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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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The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

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

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

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

Familial hypokalemic periodic paralysis associated with autoimmune thyroiditis

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

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

Primary periodic paralyses

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

Genotype and Phenotype Analysis of Patients With Sporadic Periodic Paralysis

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis

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

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

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

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

V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman

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

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

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

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

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

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

Getting a charge out of periodic paralysis?

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

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