Hypokalemic Periodic Paralysis and the Dihydropyridine Receptor (CACNLI A3): Genotype/Phenotype Correlations for Two Predominant Mutations and Evidence for the Absence of a Founder Effect in 16 Caucasian Families
نویسندگان
چکیده
'INSERM U 134 and Fed6ration de Neurologie, H6pital de la Salpetriere, 'INSERM U 155, 1D6partement de P6diatrie and 4Dipartement de N6phrologie, H6pital Necker, and 'INSERM U 153, Paris; 'Abteilung flir Angewandte Physiologie, Universita Ulm, Ulm; 7Servi~o Neurologia, Hospital de Egaz Moniz, Lisbon; 'Neurology and Human Genetics Departments, Leiden University, Leiden; 9H6pitaux de Lyon, Lyon; '°Department of Internal Medicine, Groningen University, Groningen; "CHU Amiens, Amiens; "2CHU Grenoble, Grenoble; "3Department of Neurology, Catholic University of Nijmegen, Nijmegen; '4Tohoku University School of Medicine, Sendai, Japan; '5CHU Tours, Tours; and "6CHU Montpellier, Montpellier
منابع مشابه
The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the rel...
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Hypokalemic periodic paralysis is anautosomal dominantdisease characterized by muscle weakness or paralysis with a matching fall in blood potassium levels. Paralysis attacks often occur in adolescence and are induced by strenuous exercise followed by rest, high carbohydrateor high sodiummeal content, sudden changes in temperature, and even excitement, noise, flashing lights and cold temperature...
متن کاملCorrelating phenotype and genotype in the periodic paralyses.
BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS Th...
متن کاملAcetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
OBJECTIVES Acetazolamide has been the most commonly used treatment for hypokalemic periodic paralysis since 1968. However, its mechanism of efficacy is not fully understood, and it is not known whether therapy response relates to genotype. We undertook a clinical and genetic study to evaluate the response rate of patients treated with acetazolamide and to investigate possible correlations betwe...
متن کاملVoltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (DHPR) voltage sensor. In five HypoPP families without DHPR gene defects, we identified two mutations, Arg-672-->His and -->Gly, in the voltage sensor of domain 2 of a different protein: the skeletal muscle sodium chann...
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