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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 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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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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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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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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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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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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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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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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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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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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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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Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis

The Journal of general physiology, 2014-08, Vol.144 (2), p.137-145

2014

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Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

Journal of clinical research in pediatric endocrinology, 2021-09, Vol.13 (3), p.362-366

2021

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A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels

Scientific reports, 2018-04, Vol.8 (1), p.6304-13, Article 6304

2018

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A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family

Zhong hua yi xue za zhi, 2020-12, Vol.100 (45), p.3622-3625

2020

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Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene

Journal of neuromuscular diseases, 2024, Vol.11 (4), p.871-875

2024

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

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

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

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

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

Skeletal Muscle Channelopathies

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

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

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

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

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

Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels

A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

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