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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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Structural basis for gating pore current in periodic paralysis

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

2018

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A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman

The Israel Medical Association journal, 2024-10, Vol.26 (9), p.591

2024

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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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Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

BMC nephrology, 2024-09, Vol.25 (1), p.315-3, Article 315

2024

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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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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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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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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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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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Gating pore current in an inherited ion channelopathy

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

2007

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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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Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

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

2013

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A case report of a MODY 10 family presenting as hypokalemic periodic paralysis

Chung-hua nei kʿo tsa chih, 2024-07, Vol.63 (7), p.693

2024

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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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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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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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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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A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis

The Journal of clinical investigation, 2011-10, Vol.121 (10), p.4082-4094

2011

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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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A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

The Journal of general physiology, 2007-07, Vol.130 (1), p.11-20

2007

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Prevalence study of genetically defined skeletal muscle channelopathies in England

Structural basis for gating pore current in periodic paralysis

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman

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

Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

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

A calcium channel mutant mouse model of hypokalemic periodic paralysis

Mechanism of Thyrotoxic Periodic Paralysis

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

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

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

Gating pore current in an inherited ion channelopathy

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

Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

A case report of a MODY 10 family presenting as hypokalemic periodic paralysis

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

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

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

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

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

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis

Correlating phenotype and genotype in the periodic paralyses

PharmGKB summary: very important pharmacogene information for CACNA1S

A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

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