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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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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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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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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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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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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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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 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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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

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

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

PharmGKB summary: very important pharmacogene information for CACNA1S

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

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

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

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

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