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The aim of this study was to measure changes in the antioxidant systems of epileptic children who had been receiving either valproate or carbamazepine monotherapy for 2 years. For this purpose, levels of erythrocyte glutathione, glutathione peroxidase, superoxide dismutase, and serum lipid peroxidation in 25 healthy children and 27 children who had(More)
The effects of carbamazepine (CBZ) and sodium valproate (SV) monotherapy on visual evoked potentials (VEP) were studied in 18 epileptic children receiving CBZ and nine epileptic children receiving SV. Pattern reversal VEP were determined before the administration of antiepileptic drugs (AED) and 1 year later during which time the patients had received AED.(More)
Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly(More)
PURPOSE Oxidative stress seems to be an important factor in the development of age-related macular degeneration (AMD). The role of DNA repair mechanisms has also received attention recently in AMD pathogenesis. This case-control study was conducted to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum(More)
Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with(More)
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we(More)
Sandhoff disease is a severe form of GM2 gangliosidosis that is caused by the deficiency of both hexosaminidase A and B. Startle reaction, hypotonia, psychomotor retardation, and blindness are the main clinical features. Presented are computed tomography and magnetic resonance imaging findings of four patients with Sandhoff disease diagnosed by enzymatic(More)
To evaluate renal tubular function in children receiving antiepileptic drugs the urinary activity of two lysosomal enzymes, N-acetyl-beta-glucosaminidase and beta-galactosidase, were measured. The enzyme levels were determined before the administration of antiepileptic drugs and 8 months after. Fourteen epileptic children received valproate, and 17 received(More)
Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental delay. Absence of eye contact and head(More)
Infantile-onset megalencephalic leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have(More)
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