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)

1) Of 267 patients with epilepsy who were examined in our clinic during the period between 1964 and 1966, 97 were investigated in a 10-year follow-up study. The patients were selected according to the following criteria: the age of onset of seizures was 10 years or older and the follow-up period was 10 years after the onset of seizures. Of the 97 patients, 36 were followed up by mail. 2) In the adult 10-year follow-up study, seizures disappeared in 43.3%, decreased in 34.0%, remained unchanged in 16.5%, and were aggravated in 6.2% of the 97 patients. Comparing the five-year follow-up study with the present study, the rate of cases which were free of seizures for three years was 22.7% in the five-year study and 43.3% in this study. The seizures were controlled for at least three years in 22.9% of the cases with partial seizure and in 63.3% of the cases with generalized seizure. The worst prognoses were found in cases with versive seizure in which the seizure was unchanged and/or aggravated in 4 (44.4%) of 9 cases. Of 16 cases with psychomotor seizure, 25% were unchanged or aggravated. 3) Comparing the impaired consciousness seizure with the psychomotor seizure, there was a tendency for the psychomotor seizures to remain as a single type of partial seizure, while the impaired consciousness seizure tended to develop easily into a secondarily generalized seizure. 4) Of the 97 patients, three were personality disorders in 19 cases (19.6%), episodic psychotic state in 2 cases (2.1%), and mental retardation in 6 cases (6.2%). Disorders of mood, irritability and explosiveness associated with personality disorders were improved in three of six cases whose seizures disappeared. Personality disorders were found in half of those cases with partial complex seizures. No correlation was found between mental symptoms and the prognosis of seizures. 5) The EEG was improved in 15 (27.8%) of a total of 54 cases, unchanged in 35 (64.8%) and aggravated in 4 (7.4%). In comparing the prognosis of clinical seizure with changes in the EEG, the seizures improved in 40 (74.1%) of the cases, whereas the EEG improved in only 15 (27.8%) of 54 cases. Most of the clinical seizures were controlled or decreased, whether the EEG improved or not.
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PMID:A 10-year follow-up study of 97 epileptics. 47 91

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.
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PMID:Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters. 48 29

Homogenates of cultured skin fibroblasts from a non-ambulatory, 20-year-old male with cherry-red spots, corneal clouding, seizures, mental retardation, dysostosis multiplex, dwarfism, coarse facies and loss of vision, originally described by Goldberg et al. (1971), have diminished neuraminidase activity and an excess of neuraminic acid-rich compounds. Specifically, these cells have 2-17% normal neuraminidase when measured with 2-(3' methoxyphenyl)-N-acetyl-alpha-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 12 other lysosomal enzymes were either at or above the range of normal control fibroblasts. Total neuraminic acid concentration was 44.3 nmol/mg protein versus an average control value of 14.2. It is concluded that the Goldberg syndrome should be considered, along with mucolipidosis I and the cherry-red spot -- myoclonus syndrome, as resulting from a primary neuraminidase deficiency.
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PMID:Neuraminidase deficiency in the original patient with the Goldberg syndrome. 51 4

The record of 67 cases under 15 years of age who were hospitalized during status convulsivus from 1975 to 1978, the 348 cases who visited the hospital for the first time with epilepsy (Oct. 1977 to Sept. 1978) and the 32 cases who were hospitalized during status epilepticus from 1969 to 1974 and who are being followed up as outpatients were studied. The frequency of status epilepticus was 8% among epileptic children. There was no difference in the frequency of incidence between male and female. Patients with mental retardation, however, were revealed to have status epilepticus twice to three times more frequently as compared to cases without mental retardation. The major seizure types of status epilepticus in childhood were generalized tonic clonic convulsion and unilateral clonic convulsion. In 25% of the cases, status epilepticus was the first ictal manifestation. The major cause of status convulsivus was epilepsy, followed by encephalitis and encephalopathy, but cases due to brain tumor were rare. The drug of first choice for status convulsivus is diazepam. If there is any difficulty in controlling status convulsivus with diazepam, it may be worthwhile to consider what the problem is, causes of status convulsivus, seizure type, or basic disease of the patient. The effective dose of diazepam was within the range of 0.3--0.5 mg/kg. When the effect is not sufficient, the dose of diazepam should be increased to 1 mg/kg while watching the general condition of the patient. Factors affecting the prognosis of status convulsivus were its cause, duration, onset age and effectiveness of therapy during the acute stage. The frequency of cases who suffered disability after status epilepticus was 56%. (transient disability 43%, permanent disability 13%) The most frequent type of transient disability was hemiplegia. Most epileptic children who had repetitive status convulsivus revealed psychomotor retardation before first status. Factors which cause repetitive status seem to be hemispheric brain damage or diffuse corticocentrencephalic damage.
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PMID:Therapy and prognosis of status convulsivus in childhood. 52 Sep 66

Subacute progressive panencephalitis is usually a progressive and fatal disease, being uncommon temporary or definitive remissions. A three years old boy, previously vaccinated against measles, developed trembling, progressive and severe mental deterioration, partial seizures and myoclonic jerks. The electroencephalogram showed periodic high amplitude waves concomitantly with myoclonic jerks and the cerebrospinal fluid revealed an increase of the gammaglobulin fraction (16,8), benjoin coloidal reaction shifted to the left and the antimeasles antibody titres were positive (complement fixation text 1:16; neutralization test 1:32). In spite of that, two months after the beginning of the illness the patient showed mental and motor improvement and similar modifications of the electroencephalographic aspects and now, eleven months later, is well, remaining only a slight motor and mental deficiency.
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PMID:[Subacute sclerosing panencephalitis with partial remission]. 53 90

The effects of a dietary manipulation on seizure frequency and activity level of a 3 1/2-year-old male with tuberous sclerosis, mental retardation, and uncontrolled seizures were assessed. Using a reversal design, the Feingold (K-P) diet was presented and withdrawn three times, while the medication regimen remained unaltered. Every application of the K-P diet resulted in substantial reductions in seizure frequency. During a 21-week follow-up, seizure frequency remained low despite the phasing out of one drug, and seizures were reportedly eliminated 1 year later. Brief objective measures of hyperactivity failed to show any effect due to the diet changes.
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PMID:Effects of the Feingold diet on seizures and hyperactivity: a single-subject analysis. 54 79

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
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PMID:The FG syndrome: further characterization, report of a third family, and of a sporadic case. 56 38

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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PMID:Complete trisomy 22. 56 44

A cohort of 666 children who had convulsions with fever were followed to determine the risks of subsequent epilepsy. High risks were found in children with preexisting cerebral palsy or mental retardation. Other major risk factors were atypical features of the febrile convulsions (such as focal seizures) and duration of febrile seizures for 10 minuts or more. The risk of developing epilepsy by age 20 was about 6 percent for all children who had experienced febrile convulsions. However, this risk figure consisted of a combination of 2.5 percent of children without prior neurologic disorder or atypical or prolonged seizures, and 17 percent of those with such complications.
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PMID:The risk of epilepsy following febrile convulsions. 57 73

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.
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PMID:Hyperthermia as a possible teratogenic agent. 66 Mar 52


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