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)

Two patients with encephalocraniocutaneous lipomatosis have been studied. The main features of the syndrome are unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral malformations. Seizures beginning in infancy and varying degrees of mental retardation are present in affected patients. The involved tissues are derived from the embryonic ectodermal and mesodermal layers.
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PMID:Encephalocraniocutaneous lipomatosis. 66 83

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.
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PMID:Partial trisomy-5p. 68 89

A case of musicogenic epilepsy or psychomotor seizures supervening whenever the patient hears a certain tune is presented. Nearly 70 cases of musicogenic epilepsy have been documented so far. The findings in these cases including those encountered by ourselves may be summarized as follows: Musicogenic epilepsy is more common among middle-aged persons. In an unexpectedly large proportion of cases the cause is unknown. Among the organic causes, head injury is of the highest incidence. It is quite unlikely that brain bumor is responsible. There is no dementia or mental retardation as in some forms of reflex epilepsy. The seizure is overwhelmingly of the psychomotor type. The EEG pattern often suggests temporal lobe epilepsy. There seems to be no cerebral dominance. Different kinds of music can be the inducer, ranging from those primarily intended to stimulate the sense to those appealing to affect. The activating mechanism of the condition still remains obscure. In the strict sense of the word, the condition cannot be termed reflex epilepsy.
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PMID:[About musicogenic epilepsy (author's transl)]. 70 53

Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.
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PMID:Tuberous sclerosis. Report of nine cases and a review. 71 85

Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.
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PMID:[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)]. 82 74

Eight severely epileptic patients, four males and four females, ranging in age from 10 to 29 years, were trained to increase 12-14 Hzeta EEG activity from the regions overlying the Rolandic area. This activity, the sensorimotor rhythm (SMR), has been hypothesized to be related to motor inhibitory processes (Sterman, 1974). The patients represented a cross-section of several different types of epilepsy, including grand mal, myoclonic, akinetic, focal, and psychomotor types. Three of them had varying degrees of mental retardation. SMR was detected by a combination of an analog filtering system and digital processing. Feedback, both auditory and/or visual, was provided whenever one-half second of 12-14-Hz activity was detected in the EEG. Patients were provided with additional feedback keyed by the output of a 4-7-Hz filter which indicated the presence of epileptiform spike activity, slow waves, or movement. Feedback for SMR was inhibited whenever slow-wave activity spikes or movement was also present. During the treatment period most of the patients showed varying degrees of improvement. Two of the patients who had been severely epileptic, having multiple seizures per week, have been seizure free for periods of up to 1 month. Other patients have developed the ability to block many of their seizures. Seizure intensity and duration have also decreased. Furthermore, the successful patients demonstrated an increase in the amount of SMR and an increase in amplitude of SMR during the training period. Spectral analyses for the EEGs were performed periodically. The effectiveness of SMR conditioning for the control of epileptic seizures is evaluated in terms of patient characteristics and type of seizures.
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PMID:Behavioral management of epileptic seizures following EEG biofeedback training of the sensorimotor rhythm. 82 50

In the area of Cesena, Italy, the prevalence of epilepsy was about 3/1,000 among the 13,000 children of school age, 6-14 years. Only half the epileptic pupils had a normal scholastic record. One-third were in special classes, nearly all because of mental retardation due either to birth injury or to damage in infancy. The others (17%) were behind by one or more classes, mainly because of a depressive reaction owing (in half of the intelligent epileptics) mainly to classmates' fear of seizures and to the hostility of classmates' parents after the pupil had a grand mal seizure in school. Teachers had usually not learned how to manage either seizures in the classroom or the problems of pupils with epilepsy.
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PMID:Record in grade school of pupils with epilepsy: an epidemiological study. 82 93

Microcephaly and considerable motor and mental retardation occurred in two non-phenylketonuric children of an untreated mother with phenylketonuria. The cerebral damage of the children must be considered the consequence of the maternal metabolic disorder. Since the first phenylketonuric children who were treated on strict diet are now reaching the age of marriage and pregnancy, the problem of maternal phenylketonuria is becoming topical. Published reports indicate that of 72 well documented cases with a maternal phenylalanine level above 200 mg/1 (1210 mumol/1) 39 offspring had microcephaly, in 33 intra-uterine growth had been retarded and in 25 there are cerebral palsy and seizures. Almost all had mental retardation. At the same time there have been reports about three normal children whose mothers had kept to a phenylalanine-low diet during their pregnancy.
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PMID:[Children of mothers with phenylketonuria (author's transl)]. 83 53

Siblings are reported with severe mental retardation, spastic cerebral palsy and seizures; in addition they had progressive or intermittent jaundice and recurrent infections; they died at 3 and 4 years respectively. Neuropathological studies in one showed a small brain with an almost complete lack of myelin in cerebral white matter, brain stem, cerebellum and anterolateral parts of the spinal cord. The condition most likely represents a dysgenesis of myelin (dysmyelination), possibly due to an inability of oligodendrocytes to form myelin and/or metabolic defects in the process of myelination. This mental retardation condition is probably inherited as an autosomal recessive trait and may represent a special type of a primary CNS developmental defect.
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PMID:Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? 83 46

A simple fluorescent spot screening test has been developed for the identification of individuals with arginase deficiency (hyperargininemia). The assay is based on the coversion of arginine to ornithine and urea by arginase present in 1/8 inch disc of dried blood on filter paper. The enzyme activity is visually estimated by the oxidation of NAD-H to NAD+ in a coupled kinetic reaction. In the absence of the enzyme, there is no oxidation of the NAD-H and consequently no loss of fluorescence. The screening assay has been used to identify successfully both heterozygous and homozygous arginase-deficient crabeater macaques (M. fascicularis) as well as three patients with hyperargininemia. This test can be used to screen large numbers of patients with mental retardation or seizure disorders rapidly to determine the frequency of this disorder more precisely.
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PMID:A simple screening test for arginase deficiency (hyperargininemia). 84 87


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