Associated Papers
Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Barrachina-Esteve O et al.
Neuromuscular Disorders : Nmd, 2025
COVID-19 infection and intense physical activity in hypokalemic periodic paralysis.
Cammarata-Scalisi F et al.
Boletin Medico Del Hospital Infantil De Mexico, 2025
A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
Zhou W et al.
Bmc Pediatrics, 2023
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.
Nuzhnyi EP et al.
Frontiers in Neurology, 2023
Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.
Jin JY et al.
Frontiers in Genetics, 2021
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.
Tan SV et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2020
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.
Kubota T et al.
Brain Communications, 2020
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.
Allard B et al.
The Journal of Physiology, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.
Ke Q et al.
Neuromuscular Disorders : Nmd, 2015
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
Jia BX et al.
Neurological Research, 2015
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 2012
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
Sung CC et al.
The American Journal of the Medical Sciences, 2012
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I et al.
Biochimie, 2011
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.
Hirano M et al.
Journal of the Neurological Sciences, 2011
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J et al.
Pflugers Archiv : European Journal of Physiology, 2010
A practical approach to genetic hypokalemia.
Lin SH et al.
Electrolyte & Blood Pressure : E & Bp, 2010
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 2009
[Phenotypic changes in the mononuclear cells of patients with primary immunodeficiencies].
Zelazko M et al.
Boletin Medico Del Hospital Infantil De Mexico, 1990
[Muscular dystrophy of the Becker type].
Carbajal-Rodríguez L et al.
Boletin Medico Del Hospital Infantil De Mexico, 1988
[Congenital malaria. Presentation of 3 cases].
Fernández-Torrano M
Boletin Medico Del Hospital Infantil De Mexico, 1988
[Esophageal atresia. A previously undescribed variant].
Castrejón-García JM et al.
Boletin Medico Del Hospital Infantil De Mexico, 1983
[A case of infantile muscular atrophy (amyotonia congenita) with hyperplasia of the pituitary eosinophilic cells].
SALAS M et al.
Boletin Medico Del Hospital Infantil De Mexico, 1960
[A case of osteogenesis imperfecta congenita (osteopsathyrosis)].
SALAS M et al.
Boletin Medico Del Hospital Infantil De Mexico, 1960
[ENDOCARDIAL FIBROELASTOSIS].
PEREZTREVINO C
Boletin Medico Del Hospital Infantil De Mexico, 0
[Primary nephrotic syndrome. Follow-up of 202 pediatric patients].
Caletti MG et al.
Boletin Medico Del Hospital Infantil De Mexico, 0