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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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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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Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Cell, 2010-01, Vol.140 (1), p.88-98

2010

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Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.160-160, Article 160

2024

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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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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells

Disease models & mechanisms, 2023-06, Vol.16 (6)

2023

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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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Gating pore current in an inherited ion channelopathy

Nature, 2007-03, Vol.446 (7131), p.76-78

2007

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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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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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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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Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

Seminars in nephrology, 2013-05, Vol.33 (3), p.237-247

2013

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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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Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Scientific reports, 2019-11, Vol.9 (1), p.17560-11, Article 17560

2019

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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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Mechanisms Responsible for ω-Pore Currents in Ca v Calcium Channel Voltage-Sensing Domains

Biophysical journal, 2017-10, Vol.113 (7), p.1485-1495

2017

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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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Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome

Clinical neurophysiology, 2018-03, Vol.129 (3), p.558-559

2018

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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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PharmGKB summary: very important pharmacogene information for CACNA1S

Pharmacogenetics and genomics, 2020-02, Vol.30 (2), p.34-44

2020

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Prevalence study of genetically defined skeletal muscle channelopathies in England

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

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients

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

Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells

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

Gating pore current in an inherited ion channelopathy

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

Skeletal Muscle Channelopathies

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

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

Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

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)

Mechanisms Responsible for ω-Pore Currents in Ca v Calcium Channel Voltage-Sensing Domains

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

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome

Correlating phenotype and genotype in the periodic paralyses

PharmGKB summary: very important pharmacogene information for CACNA1S

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