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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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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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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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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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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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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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Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

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

2013

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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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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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Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

Muscle & nerve, 2014-09, Vol.50 (3), p.327-332

2014

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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1175-n/a

2020

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A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

Journal of the neurological sciences, 2011-10, Vol.309 (1), p.9-11

2011

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Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis

European journal of paediatric neurology, 2010-05, Vol.14 (3), p.278-281

2010

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A novel sodium channel mutation in a family with hypokalemic periodic paralysis

Neurology, 1999-12, Vol.53 (9), p.1932-1932

1999

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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Channels (Austin, Tex.), 2015-01, Vol.9 (2), p.82-87

2015

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Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis

Molecular medicine reports, 2015-10, Vol.12 (4), p.6267-6274

2015

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The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

The Journal of neuroscience, 2000-12, Vol.20 (23), p.8610-8617

2000

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Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

Channels (Austin, Tex.), 2014-09, Vol.8 (5), p.467-471

2014

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Gating defects of a novel Na + channel mutant causing hypokalemic periodic paralysis

Biochemical and biophysical research communications, 2006-09, Vol.348 (2), p.653-661

2006

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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

Journal of molecular medicine (Berlin, Germany), 2005-03, Vol.83 (3), p.203-208

2005

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Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

Journal of medical genetics, 2008-10, Vol.45 (10), p.686-688

2008

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Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition

Clinical neurology and neurosurgery, 2012-07, Vol.114 (6), p.801-802

2012

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INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

Muscle & nerve, 2010-09, Vol.42 (3), p.315-327

2010

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Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

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

Hypokalemic periodic paralysis: a 3-year follow-up study

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

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

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

Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis

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

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis

The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

Gating defects of a novel Na + channel mutant causing hypokalemic periodic paralysis

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

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