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)

We studied 153 patients with partial epilepsy who were placed on a carbamazepine monotherapy plan in order to evaluate the clinical factors that may determine drug responsiveness to carbamazepine. The subjects were divided into 3 groups based on their therapeutic outcome--complete seizure control (44%), significant seizure reduction (32%) and unsatisfactory control (24%). Fifteen tentative clinical factors were examined in relation to the therapeutic outcomes. Factors such as seizure type, number of generalized tonic-clonic seizures, age of onset, duration of illness, seizure frequency, previous treatment and EEG finding were relevant to drug responsiveness. However, other variables including mental retardation, etiology, febrile convulsion, positive family history and abnormal neurologic examination showed no significant correlation. Our data suggest that a potential success of carbamazepine treatment should not be underestimated even in patients with complicated clinical features.
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PMID:Can we predict carbamazepine responsiveness in partial epilepsy? 143 65

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.
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PMID:Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. 145 97

Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.
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PMID:Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. 147 43

Little is known about the handicapping effect of epilepsy without other neurological deficits on an epileptic individual's life. The purpose of this study was to collect information on the occurrence of disabilities and handicaps in an unselected population sample of children, 4-15 years of age, and to compare the results with matched controls. The prevalence of epilepsy in the study population was 0.68% (143/21, 104). Time elapsed from last seizure was at least 1 year in 62.1% of the cases. There was marked neurologic comorbidity in the children with epilepsy; an accessory neurological deficit was found in 39.9%, the most frequent neurological impairments being mental retardation (31.4%), speech disorders (27.5%), and specific learning disorders (23.1%). A handicap was experienced in 20.7% of children with epilepsy only; i.e., with no other neurologic impairments, compared to 0.9% of matched controls. This means a 21.7-fold (95% CI, 6.3-74.5) risk of the occurrence of a handicap in children with epilepsy compared to controls. Orientation and social integration handicaps were significantly more frequent in children with epilepsy only compared to controls. Occurrence of communication disability, situational disability, or satisfactory to poor economic status of the family were the independent predictors of the occurrence of a handicap in children with epilepsy only.
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PMID:Epilepsy in children: prevalence, disability, and handicap. 153 96

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.
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PMID:Epidermal nevus syndrome: subgroup with neuronal migration defects. 155 48

The incidence of carbamazepine-associated behavioral side effects in 65 individuals with mental retardation and additional seizure and/or psychiatric or behavioral disorders was evaluated. We identified 6 patients (9.2%) who experienced medication side effects, ranging from irritability to mania. Four of the 20 patients (20%) who received carbamazepine purely for treatment of a behavioral or psychiatric disorder experienced medication side effects, whereas none of the 21 patients treated for an isolated seizure disorder experienced similar effects. This difference was statistically significant, p less than .05. The incidence of behavioral side effects of medication was not associated with age, sex, or serum carbamazepine level. The chemical structure and mechanism of carbamazepine use in various disease processes were discussed.
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PMID:Adverse behavioral effects in individuals with mental retardation and mood disorders treated with carbamazepine. 156 12

A case of alternating hemiplegia in a young girl is presented. The partial benefits of treatment with a calcium antagonist Flunarizine in this patient and in those reported in literature are reviewed. The onset of the disease in this girl was at three months of age with several episodes that were diagnosed as seizures; afterwards she presented, besides, repeated attacks of hemiplegia involving both sides of her body in an alternating way each time with daily frequency and hours of days of duration accompanied of bad mood and irritability as well as autonomic disturbances, oculomotor abnormalities, acquired mental retardation and residual focal neurological abnormalities. After one year of treatment with a calcium-entry blocker: Flunarizine, there was a 30% reduction in the attacks frequency as well as in its severity and stop of the progression of mental retardation. So we report the consequence of precocious diagnosis and treatment of this not well known entity whose clinical signs resemble paroxistic vascular anomalies in the brainstem territory.
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PMID:[Alternating hemiplegia. Partial effectiveness of treatment with flunarizine]. 157 Nov 84

The intracranial haemorrhages presented within a group of 64 haemophiliacs along 25 years were revised. During this period, 10 such episodes were seen in 8 patients with haemophilia A; six of them appeared in children under 10 years of age. In five instances there were traumatic antecedents, whereas in the remaining five the haemorrhage was spontaneous, no vascular abnormalities being demonstrated in these last. The lesions observed were: intracerebral haematoma in three instances, subdural haematoma in four, subarachnoid haemorrhage in two cases and cerebellar haematoma in one case. Only one of the episodes was lethal, death being related with infectious complications. Recurrences were observed in two patients. Two patients had sequelae with seizures, plus mental retardation and motor deficit in one of them. Substitutive therapy shows capable of controlling this severe complication of haemophilia, provided it is started promptly and fair rates of factor VIII are maintained. Such therapy must be kept for longer periods in these patients with traumatic antecedents.
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PMID:[Intracranial hemorrhage in hemophiliacs. Study of 10 episodes]. 158 36

A serious shortage of psychiatrists trained to care for mentally retarded patients exists. Based on a successful program that has been in place for more than a decade, the authors offer guidelines for training psychiatric residents in the diagnosis and treatment of mental illness in mentally retarded persons. They describe a model curriculum and suggest ways to modify existing four-year curricula. Special diagnostic skills for working with this population, such as posing questions in concrete terms and ruling out the effects of disabilities like seizure disorders, are reviewed. Important treatment issues include knowing the side effects of neuroleptics and understanding the stages through which families and other caregivers pass in accepting a person's mental retardation.
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PMID:Training psychiatric residents in the diagnosis and treatment of mental illness in mentally retarded persons. 158 15


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