Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Free amino acid patterns of cerebrospinal fluid in infants and children with various types of convulsive disorders were compared with those in age-matched normal subjects. The total free amino levels in Lennox syndrome were higher than the normal values, and those in infantile spasms controlled by ACTH were higher than those in uncontrolled infantile spasms. Although the levels of only one or two amino acids in tonic-clonic seizure, focal seizure and febrile seizure were higher or lower than those of the controls, the levels of 8 amino acids in infantile spasms were lower and those of 10 amino acids in Lennox syndrome were generally higher compared to the controls. Among amino acids in CSF of children with tonic-clonic seizure, infantile spasms or Lennox syndrome, only the ornithine level was commonly lower than that of the controls. After the treatment, in tonic-clonic seizure, the levels of taurine, asparagine and glycine were increased, and in infantile spasms, those of asparagine, glutamine, glycine, alanine, phenylalanine, lysine and arginine were increased while that of taurine was decreased. These results suggest that each type of convulsive disorder shows the specific amino acid pattern, and the effects of anticonvulsants may be partially understood through the changes of the free amino acid patterns in the brain.
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PMID:Amino acid metabolism in the brain with convulsive disorders. Part 3: Free amino acid patterns in cerebrospinal fluid in infants and children with convulsive disorders. 632 17

The effects of valproate on CNS concentrations of gamma-aminobutyric acid (GABA), glulamate (GLU), glutamine (GLN); dopamine (DA), serotonin (5-HT), and metabolites were examined in tissue extracts of caudate nucleus of genetic substrains of Balb/c mice susceptible (EP) or resistant (ER) to audiogenic seizures. Generalized tonic-clonic seizures observed in EP mice were inhibited by valproate, administered 1 h prior to testing, in a dose-response fashion. Concentrations of GABA, GLU, and GLN, which were lower in EP mice than in ER mice, were significantly increased by valproate at doses of 180 and 360 mg/kg. Concentrations of homovanillic acid (HVA) and hydroxyindoleacetic acid (5-HIAA), metabolites of DA and 5-HT, were substantially increased by valproate at these doses. The in situ activity of tyrosine hydroxylase (TH) was not significantly influenced by valproate, whereas a valproate-induced increase in tryptophan hydroxylase (TPH) activity was observed in both striatum and in midbrain tegmentum. The data are consistent with the interpretation that anti-convulsive doses of valproate influences the intraneuronal metabolism of monoamines, GABA, and glutamate concurrently. Valproate's influence on the metabolism of both major inhibitory (GABA) and excitatory (GLY amino acids in striatum could contribute to its anti-convulsive effects in genetically seizure prone mice, as well as to the accumulation of DA and 5-HT metabolites.
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PMID:Effects of valproate on amino acid and monoamine concentrations in striatum of audiogenic seizure-prone Balb/c mice. 914 15

Branched-chain amino acids, and mainly leucine act as nitrogen donors in the cerebral glutamate-glutamine cycle, thereby reducing brain excitability. Rats equipped with cortical electrodes received 300 mg/kg of leucine, isoleucine, valine or the ketoacid of leucine, alpha-ketoisocaproate at 2 h before the induction of seizures by 40 mg/kg pentylenetetrazol. Control groups received saline or a commercial mixture of amino acids, Vamine(R). Leucine and isoleucine increased the latency to absence-like and tonic-clonic seizures but did not influence the duration of the tonic-clonic seizure. Vamine(R), valine and alpha-ketoisocaproate had no effect. These data are consistent with the role of leucine in buffering brain glutamate concentration.
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PMID:Modulation of pentylenetetrazol-induced seizure activity by branched-chain amino acids and alpha-ketoisocaproate. 987 52

Primary granulomatous angiitis of the central nervous system (CNS) is extremely rare. Its preoperative diagnosis is difficult as the condition displays nonspecific features on routine neuroimaging investigations. In this paper, the authors report findings of magnetic resonance (MR) spectroscopy and fractional anisotropy (FA) with diffusion tensor MR imaging in a case of granulomatous angiitis of the CNS. A 30-year-old man presented with morning headaches and grand mal seizures. An MR image revealed a mass resembling glioblastoma in the right temporal lobe. Magnetic resonance spectroscopy showed a high choline/creatine (Cho/Cr) ratio indicative of a malignant neoplasm, accompanied by a slight elevation of glutamate and glutamine. The FA value was very low, which is inconsistent with malignant glioma. The mass was totally removed surgically. Histologically, the peripheral lesion of the mass consisted of a rough accumulation of fat granule cells, infiltration of inflammatory cells, and distribution of capillary vessels. Some vessels within the lesion were replaced by granulomas. The histological diagnosis was granulomatous angiitis of the CNS. The MIB-1-positive rate of the granuloma was approximately 5%. Both MR spectroscopy and FA were unable to accurately diagnose granulomatous angiitis of the CNS prior to surgery; however, elevated Cho/Cr and glutamate and glutamine shown by MR spectroscopy may indicate the moderate proliferation potential of the granuloma and the inflammatory process, respectively, in this condition. Although the low FA value in the present case enabled the authors to rule out a diagnosis of glioblastoma, FA values in inflammatory lesions require careful interpretation.
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PMID:Primary granulomatous angiitis of the central nervous system: findings of magnetic resonance spectroscopy and fractional anisotropy in diffusion tensor imaging prior to surgery. Case report. 1793 38

Cortical atrophy has been identified using magnetic resonance imaging (MRI) in humans and dogs with Lafora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicates decreased N-acetyl-aspartate (NAA) relative to other brain metabolites. Brain 1HMRS findings in dogs with LD are lacking. A 6-year-old female Beagle was presented with a history of a single generalized tonic-clonic seizure and episodic reflex myoclonus. Clinical, hematological, and neurological examination findings and 3-Tesla MRI of the brain were unremarkable. Brain 1HMRS with voxel positioning in the thalamus was performed in the affected Beagle. It identified decreased amounts of NAA, glutamate-glutamine complex, and increased total choline and phosphoethanolamine relative to water and total creatine compared with the reference range in healthy control Beagles. A subsequent genetic test confirmed LD. Abnormalities in 1HMRS despite lack of changes with conventional MRI were identified in a dog with LD.
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PMID:Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease. 3241 79