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)

A case of tuberous sclerosis with congenital brain tumor was reported. The diagnosis was made on the basis of the pathological findings of subependymal giant cell astrocytoma, after surgery at the newborn period. After the neonatal period, the patient presented the classical triad of seizures, white spot of skin and mental retardation. The exact nature of tumor-forming giant cells remains controversial. We studied the nature of these cells using immunohistochemical method. GFAP, S-100 protein and NSE stains were all positive. This result suggested that the tumor cells had the features of both neurons and astrocytes.
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PMID:[A case of tuberous sclerosis with congenital brain tumor; an immunohistochemical study]. 159 Oct 26

A multisource medical register review identified persons with active epilepsy in northern Sweden. Seven hundred thirteen persons aged greater than or equal to 17 years with epilepsy were determined on the prevalence day, December 31, 1985. The overall prevalence was 553 in 100,000 (566 in 100,000 if adjusted to the 1980 U.S. population). The ratio of males to females was 1.1, with a male prevalence of 575 and a female prevalence of 530 in 100,000. Age-specific prevalences varied between 530-644 in 100,000 except in persons aged greater than or equal to 70 years, for whom the prevalence was 321 in 100,000. Partial seizures were most common, 333 in 100,000, of whom the majority (250 in 100,000) had seizures that occasionally were secondarily generalized. Mental retardation was the foremost coexistent disorder, noted in 23%. The mean yearly seizure frequency was higher in persons with mental retardation than in nonretarded persons. Seventeen percent had seizures during the last week, 57% during the last year, whereas 16% had greater than or equal to 5 years' freedom from seizures. Most had onset of epilepsy before age 20 years. A presumed etiology was noted in 35%, more often in men than in women. Cerebrovascular disease was the most commonly identified presumed cause. Other nonepileptic diseases/disabilities were noted in 47%.
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PMID:Prevalence of epilepsy in adults in northern Sweden. 159 18

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50

We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X-linked inheritance with variable expression in females. These findings are inconsistent with the well-described X-linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin-Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females. In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X-linked probes suggests linkage with a LOD score of 1.26 at theta = 0 to a region between p 11.3 and p 21.3.
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PMID:New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. 846 65

In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X-linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.
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PMID:New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families. 160 32

Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at-onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21-23. Results in 3 families tend to support linkage to chromosome 16;3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.
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PMID:Linkage analysis in juvenile neuronal ceroid lipofuscinosis. 160 35

We report of 16 year old twinsisters with a neuronal migration disorder, twin I with mental retardation and focal epileptic seizures on MRI showed general pachygyria, laminar subcortical heterotopia and mildly dilated lateral ventricles, whereas twin II whose first symptom was a cerebral seizure only showed a focal pachygyria and laminar subcortical heterotopia; the location of pachygyria corresponded to the epileptogenic focus. The morphological expression seems to correspond with the severeness of the clinical features. Genetic as well as exogenic factors must be assumed to be causative for the migration anomalies.
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PMID:[Pachygyria and laminar heterotopic tissue. A rare case of unique expression of a neuronal migration disorder in twins]. 161 47

Thirty-one children with right (n = 18) and left (n = 13) congenital hemiplegia were compared for incidence of hand- and foot-preference, eye-dominance, and familial sinistrality. In addition, they were tested with dichotic listening for correct reports of consonant-vowel syllables. The two groups of children were closely matched on IQ and sensory functioning. Children with mental retardation, or epileptic seizures were not included. The results showed that 89% of the left hemisphere impaired (LHI) children were left-handed, all of them preferred the left foot, and 72% were left eye-dominant. In the right hemisphere impaired (RHI) group, everyone (100%) preferred the right hand and foot, and 62% were right eye dominant. The dichotic listening results showed a significant right ear advantage (REA) in the RHI-group, and a significant left ear advantage (LEA) in the LHI-group. The results are discussed in the framework of pathological handedness and shifts in hemisphere control of language in children with early brain injury. It is argued that the homogeneous samples, except for the site of lesion, provides an interesting possibility to compare cognitive effects of left and right hemisphere impairment in children.
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PMID:Pathological left-handedness revisited: dichotic listening in children with left vs right congenital hemiplegia. 162 Mar 27

The epileptic encephalopathies of infancy and childhood include West syndrome, Lennox-Gastaut syndrome, severe myoclonic epilepsy of early childhood and related syndromes. The exact limits of these syndromes are still a subject of debate. The clinical features include several types of brief, frequently repeated seizures associated with mental retardation. The causes are multiple and brain malformations and dysplasias play an important role. Treatment remains unsatisfactory and the place of surgery seems limited.
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PMID:Epileptic encephalopathies of early childhood. 162 62

We studied 70 children who had experienced at least two seizures before age 12 years, excluding febrile seizures, neonatal seizures, or seizures occurring during a metabolic, or infectious insult to the central nervous system (CNS) and who had been seizure free for at least 2 years. Twenty children (28.5%) experienced a recurrence, 75% during antiepileptic (AED) drug discontinuation or less than 6 months after discontinuation. Risk factors statistically related to seizure recurrence were greater than 10 seizures before seizure control, an abnormal EEG in the year before AED discontinuation, presence of focal neurologic signs and/or mental retardation, and presence of a mixed seizure pattern. Fourteen children (70%) with recurrence had two or more risk factors, whereas 36 (72%) without recurrence had no risk factor or only one. We conclude that a selected group of epileptic children who remain seizure-free for a period of at least 2 years can have AEDs discontinued based on presence or absence of risk factors.
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PMID:Discontinuing medication in epileptic children: a study of risk factors related to recurrence. 162 84


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