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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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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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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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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

Volltextzugriff (PDF)

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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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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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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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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

PharmGKB summary: very important pharmacogene information for CACNA1S

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

2020

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Journal of pediatric endocrinology & metabolism : JPEM, 2019-12, Vol.32 (12), p.1385

2019

Volltextzugriff (PDF)

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

The Journal of physiology, 2010-06, Vol.588 (11), p.1879-1886

2010

Volltextzugriff (PDF)

Novel CACNA1S mutation in hypokalaemic periodic paralysis

BMJ case reports, 2022-01, Vol.15 (1), p.e245952

2022

Volltextzugriff (PDF)

An atypical Ca V 1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

The Journal of general physiology, 2017-12, Vol.149 (12), p.1061

Cannon, Stephen C

2017

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Structural basis for gating pore current in periodic paralysis

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

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

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

Gating pore current in an inherited ion channelopathy

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

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

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

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

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

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

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

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

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Novel CACNA1S mutation in hypokalaemic periodic paralysis

An atypical Ca V 1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

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