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Prevalence study of genetically defined skeletal muscle channelopathies in England

Neurology, 2013-04, Vol.80 (16), p.1472-1475

2013

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Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

Muscle & nerve, 2022-12, Vol.66 (6), p.757-761

2022

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Brain (London, England : 1878), 2018-12, Vol.141 (12), p.3308-3318

2018

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Atypical presentation of hypokalemic periodic paralysis: A case report

Muscle & nerve, 2023-04, Vol.67 (4), p.E8-E9

2023

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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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Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

Neurogenetics, 2022, Vol.23 (1), p.19-25

2022

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Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Neuromuscular disorders : NMD, 2023-03, Vol.33 (3), p.270-273

2023

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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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Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Journal of the neurological sciences, 2020-05, Vol.412, p.116795-116795, Article 116795

2020

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Skeletal Muscle Channelopathies

Neurologic clinics, 2020-08, Vol.38 (3), p.481-491

2020

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Quality of life in hypokalemic periodic paralysis - a survey

Neuromuscular disorders : NMD, 2024-08, Vol.41, p.24-28

2024

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Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

Journal of the neurological sciences, 2020-05, Vol.412, p.116794-116794, Article 116794

Cannon, Stephen C.

2020

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Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Neurology, 2016-03, Vol.86 (13), p.1190

2016

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Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3766-3774

2013

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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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Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Neurology, 2011-11, Vol.77 (22), p.1960-1964

2011

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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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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004-11, Vol.63 (9), p.1647-1655

2004

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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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Hypokalemic periodic paralysis due to CACNA1S gene mutation

Neurosciences, 2019-07, Vol.24 (3), p.225-230

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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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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Prevalence study of genetically defined skeletal muscle channelopathies in England

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Atypical presentation of hypokalemic periodic paralysis: A case report

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

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

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

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients

Skeletal Muscle Channelopathies

Quality of life in hypokalemic periodic paralysis - a survey

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

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

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

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

Correlating phenotype and genotype in the periodic paralyses

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

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

Hypokalemic periodic paralysis due to CACNA1S gene mutation

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

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

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

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