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

The responsibility of the folate deficiency in some neuropsychiatric disorders is recent knowledge. The role of the folate on the nervous system is not yet well definite, but the action on the metabolism of the amino-acids, on the purine and the pyrimidine synthesis and on the metabolism of the catecholamins are certainly essential. The neuropsychiatric diseases secondary to the folate deficiency are numerous: dementia, schizophrenia like syndromes, insomnia, irritability, forgetfulness, endogenous depression, organic psychosis, pueperal psychosis, peripheral neuropathy, myelopathy (spinal cord syndrome and/or pyramidal tract damage), restless legs syndrome. Clinically the diagnosis may be difficult with sub acute combined degenration secondary to the pernicious anaemia, and the dosage of the folate (in serum, in red-cells and in cerebrospinal fluid) is necessary. The congenital defects in the uptake or utilization of the folate are associated with neuropsychiatric disturbances. The treatment is easy and safe if the vitamin B12 deficiency is eliminated and if employed with caution in epileptic patients because folate can induced seizures.
Sem Hop
PMID:[Folate and the nervous system (author's transl)]. 22 16

From the analysis of 115 cases of primary generalized epilepsies treated for a mean duration of 43 months with sodium valproate as sole therapy, it appears that: the mean effective daily dosage is 21 mg/kg; the efficacy of valproate proved excellent in 82.6% of cases (seizures fully controlled: 74%, seizures occurring exceptionally: 9%); a loss of activity was never observed; in these circumstances of prolonged administration of the drug, no signs of major intolerance were seen; side-effects occurred in 29% of cases, including 20% long-term effects (weight gain, essential tremor); 64 series of laboratory tests including 15 parameters made it possible to evaluate the hematological, hepatic and pancreatic tolerance of valproate: the majority of the tests were normal. The authors believe that during long-term therapy with valproate, monitoring does not need to include the routine performance of liver function tests, but that it would be more advisable, should a suggestive clinical sign be noted, to investigate the platelet count, coagulation (partial activated thromboplastin time) and protein synthesis (fibrinogen).
Sem Hop 1983 Apr 21
PMID:[Monotherapy with sodium valproate in generalized primary epilepsy. 2d phase: Study of long-term efficacy and tolerance]. 619 93

Waardenburg syndrome was diagnosed in a nine-month-old female infant with dystopia canthorum, broad nasal bridge, overdeveloped eyebrows, cutaneous hypopigmentation, and deafness. Seizures occurred, which makes this case unusual. CAT scan demonstrated wide subarachnoid spaces without ventricular dilatation.
Sem Hop 1982 Oct 21
PMID:[Waardenburg's syndrome associated with a generalized epileptic seizure. Cerebral tomodensitometric study]. 629 66

Invasion of the central nervous system by the larvae of Tenia Solium classically leads to severe illness. In some instances, however, the course is protracted and benign. The authors report on two patients with cysticercosis cerebri, revealed by delayed seizures without cerebral hypertension or any other manifestation. Computerized tomography established the diagnosis by demonstrating calcifications disseminated throughout the cerebral parenchyma. Such calcifications result from encapsulation of dead larvae. The possible diversity of the anatomic lesions caused directly or indirectly by the parasite explains why clinical manifestations are polymorphic. Diagnostic procedures are discussed.
Sem Hop 1983 Mar 24
PMID:[Late epilepsy in cerebral cysticercosis. 2 cases confirmed by tomodensitometry]. 630 78

CT scan examinations done in 356 children for epilepsy or occasional seizures showed normal results in over 50% of cases and abnormal results in 40%. The remaining 10% reflect the difficulties in ascertaining that a CT scan examination is normal, particularly regarding pericerebral spaces or ventricular size. The anomalies disclosed on CT scan are of little practical significance. Many of the abnormal results are not specific. An incidence on management was recorded in 5 cases. Other problems which may arise are the connexion between some CT scan findings and epilepsy, or the nature (tumoral or not) of abnormal images. In a few cases, diagnostic investigations or biopsies, which were negative in some instances, were carried out after demonstration of localized decreased density without signs of a space-occupying lesion. The differences in results between the various groups of epileptic patients underscore the necessity of a clinical selection of cases in which a CT scan is required.
Sem Hop 1983 Sep 01
PMID:[Efficacy of scanography in convulsions and epilepsy in children]. 631 82

A sixty-year-old man experienced successively over two years several episodes of circulatory collapse and meningeal hemorrhage, a myocardial infarction, an episode of ketoacidosis and a seizure before acute abdominal pain with fever related to the sudden, partial, necrosis of his tumor, led to the discovery of a pheochromocytoma. This observation exemplifies the multiple clinical aspects and diagnostic pitfalls of this secreting tumor. It underscores the misleading nature of normotensive pheochromocytomas.
Sem Hop 1983 Dec 29
PMID:[Pheochromocytoma and its diagnostic pitfalls]. 632 Apr 24

Homocysteine (Hcy) is a risk factor for Alzheimer's disease (AD). Bleomycin hydrolase (BLMH) participates in Hcy metabolism and is also linked to AD. The inactivation of the Blmh gene in mice causes accumulation of Hcy-thiolactone in the brain and increases susceptibility to Hcy-thiolactone-induced seizures. To gain insight into brain-related Blmh function, we used two-dimensional IEF/SDS-PAGE gel electrophoresis and MALDI-TOF/TOF mass spectrometry to examine brain proteomes of Blmh-/- mice and their Blmh+/+ littermates fed with a hyperhomocysteinemic high-Met or a control diet. We found that: (1) proteins involved in brain-specific function (Ncald, Nrgn, Stmn1, Stmn2), antioxidant defenses (Aop1), cell cycle (RhoGDI1, Ran), and cytoskeleton assembly (Tbcb, CapZa2) were differentially expressed in brains of Blmh-null mice; (2) hyperhomocysteinemia amplified effects of the Blmh-/- genotype on brain protein expression; (3) proteins involved in brain-specific function (Pebp1), antioxidant defenses (Sod1, Prdx2, DJ-1), energy metabolism (Atp5d, Ak1, Pgam-B), and iron metabolism (Fth) showed differential expression in Blmh-null brains only in hyperhomocysteinemic animals; (4) most proteins regulated by the Blmh-/- genotype were also regulated by high-Met diet, albeit in the opposite direction; and (5) the differentially expressed proteins play important roles in neural development, learning, plasticity, and aging and are linked to neurodegenerative diseases, including AD. Taken together, our findings suggest that Blmh interacts with diverse cellular processes from energy metabolism and anti-oxidative defenses to cell cycle, cytoskeleton dynamics, and synaptic plasticity essential for normal brain homeostasis and that modulation of these interactions by hyperhomocysteinemia underlies the involvement of Hcy in AD.
 ...
PMID:Hyperhomocysteinemia and bleomycin hydrolase modulate the expression of mouse brain proteins involved in neurodegeneration. 2449 69

Homocysteine (Hcy) is a risk factor for Alzheimer's disease (AD). Paraoxonase 1 (Pon1) participates in Hcy metabolism and is also linked to AD. The inactivation of the Pon1 gene in mice causes the accumulation of Hcy-thiolactone in the brain and increases the susceptibility to Hcy-thiolactone-induced seizures. To gain insight into the brain-related Pon1 function, we used two-dimensional IEF/SDS-PAGE gel electrophoresis and MALDI-TOF/TOF mass spectrometry to study brain proteomes of Pon1-/- and Pon1+/+ mice fed with a hyperhomocysteinemic high-methionine (Met) or a control diet. We found that: 1) proteins involved in brain-specific function (Nrgn), antioxidant defenses (Sod1, DJ-1), and cytoskeleton assembly (Tbcb, CapZa2) were differentially expressed in brains of Pon1-null mice; 2) proteins involved in brain-specific function (Ncald, Nrgn, Stmn1), antioxidant defenses (Prdx2, DJ-1), energy metabolism (Ak1), cell cycle (GDI1, Ran), cytoskeleton assembly (Tbcb), and unknown function (Hdhd2) showed differential expression in brains of Pon1-null fed with a hyperhomocysteinemic high-Met diet; 3) most proteins regulated by the Pon1-/- genotype were also regulated by the high-Met diet; 4) the proteins differentially expressed in Pon1-null mouse brains play important roles in neural development, learning, plasticity, and aging and are linked to neurodegenerative diseases, including AD. Taken together, our findings suggest that Pon1 interacts with diverse cellular processes from energy metabolism and anti-oxidative defenses to cell cycle, cytoskeleton dynamics, and synaptic plasticity essential for normal brain homeostasis and that these interactions are modulated by hyperhomocysteinemia and account for the involvement of Hcy and Pon1 in AD.
...
PMID:Inactivation of the paraoxonase 1 gene affects the expression of mouse brain proteins involved in neurodegeneration. 2484 89

Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and peripheral neuropathy. To assess the incidence, among early-onset epileptic encephalopathies (EOEE), of patients with identified congenital disorders of glycosylation (CDG), we made a review of clinical, electrophysiological, and neuroimaging findings of 27 CDG patients focusing on seizure onset, semiology and frequency, response to antiepileptic drugs (AED), and early epileptic manifestations. Epilepsy was uncommon in PMM2-CDG (11%), while it was a main concern in other rare forms. We describe a series of patients with EOEE and genetically confirmed CDG (ALG3-CDG, ALG6-CDG, DPM2-CDG, ALG1-CDG). Epileptic seizures at onset included myoclonic and clonic fits and focal seizures. With time, patients developed recurrent and intractable seizures principally tonic-clonic seizures, infantile spasms, and myoclonic seizures. Electrophysiological correlates included focal and multifocal epileptic discharges, slowed background rhythm, and generalized epileptic activity including burst suppression pattern and status epilepticus. We propose a diagnostic flowchart for the early diagnosis of CDG in patients presenting with EOEE and suggest to perform serum transferrin IEF (or capillary zone electrophoresis) as a first-line screening in early-onset epilepsy.
...
PMID:Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 2645 62