Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with generalised epileptic seizures, mental and psychotic signs was diagnosed as suffering from lead encephalopathy. He was a big consumer of home-made arrack, illicit alcohol prepared at home in secrecy, in tools containing copper and lead. Basophilic stippling increased the possibility of lead encephalopathy, which was soon proved. He was successfully treated with low doses of Versenate, a chelating factor, and totally recovered.
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PMID:Lead encephalopathy treated by versenate (CA-EDTA). 681 Dec 76

Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his condition with supplements of oral copper but as soon as these were reduced or stopped hypocupraemia and seizures resumed. Family investigation showed copper deficiency with mild symptoms in the mother and the maternal uncle. The pedigree suggests possible autosomal dominant or X-linked dominant transmission.
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PMID:Familial benign copper deficiency. 712 94

The effect of phenytoin (PHT) on the metabolism of zinc (Zn) and copper (Cu) has been studied during treatment for epilepsy. Eleven previously untreated epileptics were followed from the start of therapy together with 20 patients on long-term therapy. In eight untreated epileptic males low serum concentrations of Zn (S-Zn) were found. At the start of therapy increased S-Zn and S-Cu concentrations were noted. After 1 month of therapy S-Zn was at pretherapy levels but S-Cu was still increased. No changes in the urinary excretion of the metals or in the CSF-Zn concentrations were registered. In the patients on long-term therapy S-Zn was unchanged while S-Cu and S-ceruloplasmin were increased significantly compared with age- and sex-matched controls. It is postulated that the drug may cause a relative zinc deficiency through a chelate binding between Zn and PHT and/or an increased absorption and accumulation of Cu. These effects may be of importance in the development of intoxication symptoms and may also influence the effectiveness of seizure control.
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PMID:Zinc and copper metabolism in phenytoin therapy. 714 Jun 61

We studied 2 of 4 affected boys with a new disease associated with abnormalities of copper metabolism. The four cases occurred in two generations of a family. This syndrome was similar to Menkes disease in some respects: X-linked recessive inheritance, marked psychomotor retardation with seizures, low serum copper and ceruloplasmin levels, and a block in gut copper absorption. There were also striking differences from Menkes disease. Patients had normal birthweight at term, no hypothermia, and survived beyond the usual Menkes age group with static neurologic disease including hypotonia and choreoathetosis. In addition, general examination of both children was unremarkable apart from undescended testes and growth retardation. The hair, facies, and skin were normal and there was no radiologic evidence of bony changes. Detailed studies of copper absorption were performed.
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PMID:An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. 719 7

Reports suggesting participation of trace metals in processes of seizure initiation and propagation in humans and experimental animals prompted an investigation of the relationship between copper and zinc status and seizure activity in the Senegalese baboon, Papio papio. An evaluation of serum trace metal concentrations in three species of nonhuman primates revealed the presence of elevated zinc levels in P. papio moderately sensitive to photically induced seizures, compared with mildly seizure-prone and nonseizure-prone P. papio as well as nonseizure-prone primates. Papio cynocephalus and Macaca mulatta. By contrast, copper levels appeared similar in all three species. Chronic oral treatment with D-penicillamine, a chelating agent, resulted in marked protection against photic-induced seizures in the P. papio baboon, as well as changes in the trade metal status of serum and urine. Oral dosages of 30 to 40 mg/kg/day were sufficient to establish anticonvulsant effect over a period of 4 to 9 weeks in all animals tested without signs of toxicity or tolerance. Results suggest that metal chelation treatment may represent a new approach to the management of certain forms of human epilepsy.
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PMID:The influence of D-penicillamine treatment upon seizure activity and trace metal status in the Senegalese baboon, Papio papio. 720 48

Brain glucose consumption in rats with unilateral visual cortex implants of epileptogenic cobalt rods was assessed by the 2-deoxyglucose (2-DG) method. Nine days postoperatively, "dark patches" of higher 2-DG uptake, bordered by tissue showing lesser uptake, were observed around the implant site. The dark patches were located just beyond the damaged perifocal zone, in normal-appearing Nissl-stained cortex designated by the electrocorticographic (ECoG) work of other investigators as the focus of epileptic activity. As was also predictable from earlier research, the cortical patches were prominent on day 9 and absent by day 35. Regions of high metabolic activity in thalamus, presumably the result of axonal transport of cobalt ions, were also strikingly evident in the projection nuclei connecting with the cortical implant sites. The abnormal thalamic activity is likely the metabolic counterpart of "secondary foci," a characteristic feature of the cobalt model. The longevity of these thalamic dark patches, which developed between days 2 and 9 and did not disappear until between days 90 and approximately 365, may account for the persistent sensitivity to seizure-inducing drugs that occurs secondary to cobalt implants. The absence of dark patches after control nonseizure-inducing but toxic copper implants argued against the possibility that the dark patches reflected some nonepileptogenic effect of the cobalt. As well, under pentobarbital anesthesia, the patches behaved in a manner suggesting that their 2-DG uptake reflected neural and not glial cell activity. Dark patches are a distinctive autoradiograph signature of tissue made epileptic by cobalt.
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PMID:[14C]2-deoxyglucose autoradiographic technique provides a metabolic signature of cobalt-induced focal epileptogenesis. 792 65

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.
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PMID:Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 809 5

Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia. These symptoms have been attributed to suppression of copper-dependent enzymes resulting from copper deficiency. We report a case of a 7-month-old infant with Menkes disease who underwent repair of inguinal hernia. Anesthesia was maintained with sevoflurane-N2O-O2, and the operation was carried out uneventfully. Although the patient had been medicated with anticonvulsants preoperatively, transient seizure occurred in the recovery room. We also discuss pathophysiology and anesthetic management of a patient with Menkes disease.
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PMID:[Anesthetic management of an infant with Menkes disease]. 823 Jul 25

In the present study the water and ion (Na+, K+, Ca2+, Fe3+, Se4+, Mg2+, Mn2+, Mn2, Se4+, Cu2+) content in the brain of genetically epilepsy-prone rats (GEPRs) and of 21-, 45-, and 60-day-old DBA/2 mice were determined, and compared with those measured in normal controls (Sprague-Dawley rats and Swiss mice), to verify whether the predisposition to audiogenic seizures (AGS) may be partially related to changes in the cerebral osmotic and ionic state. Our findings clearly evidenziate two points: a) a more complex shift in brain ionic balance (rather than a peculiar modification in the concentration of a single ion) seems very likely involved in AGS susceptibility; (b) brain Ca2+ and Se4+ amounts, together with the water content, appear to be really important factors to which a role in abnormal seizure predisposition may be attributed.
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PMID:Genetically epilepsy-prone rodents show some changes of ion levels in the brain. 827 21

Human epileptics have been reported to have low blood manganese (Mn) concentrations in comparison to nonepileptics, an observation that is important because Mn deficiency can increase seizure susceptibility in experimental animals. Factors that have been suggested to contribute to the low blood Mn levels in epileptics include anticonvulsant use, seizure-induced tissue redistribution of Mn, and genetics; in the present study, the first of these possibilities was tested. Wistar rats were fed semipurified diets containing diphenylhydantoin ([DPH] 3 g/kg diet), phenobarbital ([PB] 2 g/kg diet), or primidone ([PRIM] 3 g/kg diet) for 7 weeks, at which time they were killed and tissues collected and analyzed for Mn, zinc (Zn), copper (Cu), and iron (Fe) concentrations. In comparison to pair-fed rats, DPH- and PRIM-fed rats had significantly elevated liver Mn concentrations, while Mn concentrations in blood, brain, heart, and kidney were unaffected by anticonvulsant exposure. Changes in the concentrations of Zn, Cu, and Fe in specific tissues were also found. Overall, these findings suggest that the anticonvulsants tested do not lead to significant derangements in the metabolism of Mn.
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PMID:Anticonvulsant-induced changes in tissue manganese, zinc, copper, and iron concentrations in Wistar rats. 834 1


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