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Prevalence study of genetically defined skeletal muscle channelopathies in England

Neurology, 2013-04, Vol.80 (16), p.1472

2013

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Brain (London, England : 1878), 2018-12, Vol.141 (12), p.3308-3318

2018

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Atypical presentation of hypokalemic periodic paralysis: A case report

Muscle & nerve, 2023-04, Vol.67 (4), p.E8-E9

2023

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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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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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Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Neurology, 2016-03, Vol.86 (13), p.1190

2016

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Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3766-3774

2013

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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Journal of neurology, 2019-07, Vol.266 (7), p.1623-1632

2019

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Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Neurology, 2011-11, Vol.77 (22), p.1960

2011

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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004-11, Vol.63 (9), p.1647

2004

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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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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

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Hypokalemic periodic paralysis due to CACNA1S gene mutation

Neurosciences (Riyadh, Saudi Arabia), 2019-07, Vol.24 (3), p.225-230

2019

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Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Acta myologica, 2018-09, Vol.37 (3), p.193-203

2018

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Brain (London, England : 1878), 2001-06, Vol.124 (6), p.1091-1099

2001

Volltextzugriff (PDF)

Periodic paralysis

Advances in genetics, 2008, Vol.63, p.3-23

Fontaine, Bertrand

2008

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New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

Neurology, 2004-12, Vol.63 (11), p.2120

2004

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Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients

Neurological research (New York), 2015-03, Vol.37 (3), p.246-252

2015

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Primary periodic paralyses

Acta neurologica Scandinavica, 2008-03, Vol.117 (3), p.145-158

Finsterer, J.

2008

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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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Prevalence study of genetically defined skeletal muscle channelopathies in England

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Atypical presentation of hypokalemic periodic paralysis: A case report

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

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

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

Correlating phenotype and genotype in the periodic paralyses

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

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

Hypokalemic periodic paralysis due to CACNA1S gene mutation

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Periodic paralysis

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients

Primary periodic paralyses

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

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