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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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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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Structural basis for gating pore current in periodic paralysis

Nature (London), 2018-05, Vol.557 (7706), p.590-594

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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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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A calcium channel mutant mouse model of hypokalemic periodic paralysis

The Journal of clinical investigation, 2012-12, Vol.122 (12), p.4580-4591

2012

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Mechanism of Thyrotoxic Periodic Paralysis

Journal of the American Society of Nephrology, 2012-06, Vol.23 (6), p.985-988

2012

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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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Voltage-dependent Ca 2+ release is impaired in hypokalemic periodic paralysis caused by Ca V 1.1-R528H but not by Na V 1.4-R669H

American Journal of Physiology: Cell Physiology, 2022-08, Vol.323 (2), p.C478-C485

2022

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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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Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report

European review for medical and pharmacological sciences, 2023-03, Vol.27 (5), p.1767

2023

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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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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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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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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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Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP

The Journal of general physiology, 2021-11, Vol.153 (11), p.1

2021

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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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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

Structural basis for gating pore current in periodic paralysis

Atypical presentation of hypokalemic periodic paralysis: A case report

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

A calcium channel mutant mouse model of hypokalemic periodic paralysis

Mechanism of Thyrotoxic Periodic Paralysis

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

Voltage-dependent Ca 2+ release is impaired in hypokalemic periodic paralysis caused by Ca V 1.1-R528H but not by Na V 1.4-R669H

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

Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report

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

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

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

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

Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP

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

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