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Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-generation BFNC family carrying a novel(More)
Glutathione (reduced (GSH) and oxidized (GSSG)), lipid peroxidation products (TBAR) and in vitro production of reactive oxygen species (ROS, by means of stimulated lipid peroxidation, H2O2 formation and amplified chemiluminescence (CL) in 9000 xg brain supernatants) were studied in the cerebellum (C) and temporoparietal area (TP) of the brain of normal(More)
Evidence is provided that the amplifiers luminol and lucigenin react with different reactive oxygen species (ROS), depending on the ROS-generating system used. H2O2 is used to produce calibration curves for luminol- and lucigenin-amplified chemiluminescence. With this chemiluminescence generator we characterized the specificity and sensitivity of luminol-(More)
Malignant hyperthermia (MH) is a condition that manifests in susceptible individuals only on exposure to certain anaesthetic agents. Although genetically heterogeneous, mutations in the RYR1 gene (19q13.1) are associated with the majority of reported MH cases. Guidelines for the genetic diagnosis for MH susceptibility have recently been introduced by the(More)
The glutathione synthesizing enzymes, gamma-glutamyl cysteinyl synthetase and glutathione synthetase, were found in all skeletal muscles studied in dogs. Both occurred also in the liver, but only the former in the lung. The influence of physical training on these enzyme activities was also investigated. For 30 weeks the dogs ran 5 days week-1 on a treadmill(More)
The development of aryl hydrocarbon (benzo(a)pyren)hydroxylase (AHH), succinate dehydrogenase and glucose-b-phosphatase activities in the liver and the kidney and of liver weight and glycogen were investigated in 7-day-old rats treated i.p. with 1, 10, and 100 mg 3-methylcholanthrene (MC)/kg body weight. 3-MC highly specifically influenced the AHH activity,(More)
172 Light and Electron Microscope Studies on Jirovecia involuta sp. A Complementary Experimental Study of Cell Division in the Dinoflagellate Prorocentrum micans Hrabyeia xerkophora n. gen. n. sp., a New Microsporidian with Tailed Spores from the Oligochaete Nais christinae Kasparzak, 1973 Location of rDNA in the Heteromeric Macronucleus of Chilodo-nella(More)
In trained (long-distance runners) and untrained volunteers aged 22 to 57 years, basal plasma glutathione (GSH) concentration decreased significantly with increasing age. In most age groups basal GSH concentration of oxidized glutathione (GSSG) and lipid peroxides (LPO) was not influenced either by age or by training. Following acute physical exercise(More)
The peroxidative and glutathione status as well as the production of reactive oxygen species were studied in the brain of normal weight (NW) and intra-uterine growth-retarded (IUGR) newborn piglets. In NW as well as IUGR newborn piglets reduced (GSH) and oxidized (GSSG) glutathione, lipid peroxides, iron stimulated lipid peroxidation, H2O2 production and(More)
In rats physical exercise (30 min running on a treadmill) lowered total glutathione, oxidized glutathione and lipid peroxide concentration in blood. In man (young healthy male volunteers, moderate to excellent physical condition) running (30 min) did not influence these parameters. It is concluded that by normal life and psychophysical vigilance the(More)