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)

3-Methylglutaconic aciduria is an organic aciduria with diverse phenotypic presentations. In more than half of the cases it is a 'neurologic or silent organic aciduria', and, except for one subtype, the biochemical defect is unknown. This report describes 10 new patients. Four of them presented with early global neurologic involvement and arrested development. They rapidly became demented, developed myoclonus or tonic-clonic seizures, spastic quadriplegia, deafness and blindness, and died. Three had acidosis and hypoglycemia neonatally; later, myoclonus and deafness, and eventually severe mental retardation and spastic quadriplegia developed. One patient died. In three children who presented with sudden onset of extrapyramidal tract symptoms, with or without optic atrophy, the clinical presentation was significantly different from that described either for 'unspecified' type or for Costeff syndrome. All three patients showed clinical improvement soon after treatment with coenzyme Q.
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PMID:3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. 757 69

We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment.
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PMID:Ectrodactyly and proximal/intermediate interstitial deletion 7q. 774 69

Four patients suffering for severe drug-resistant epilepsy from bihemispheric cortical dysplasias underwent anterior callosotomy. One of these patients also presented mental retardation of mild degree associated with the epileptic syndrome. There were no operative complications in this series. Clinical signs of interhemispheric disconnection were not detectable postoperatively. Twenty-eight to 53 months after surgery, the generalized seizures were completely suppressed in 2 cases, and were reduced by 89-97% in frequency in the other 2 cases. Partial seizures were less affected by callosotomy being reduced by 14-87%. In an additional fifth case of intractable epilepsy from bihemispheric cortical dysplasias with associated severe mental retardation operated upon elsewhere for callosotomy and followed at our institution, the outcome for seizures was completely unsatisfactory. Neurophysiological studies revealed that the interhemispheric transfer (IHT) of visuo-motor responses was functionally impaired after callosotomy only in one patient who harboured bilateral cortical dysplasias in the occipital lobes. This malformation might affect the pattern of axonal projection to the posterior portion of the corpus callosum which is considered of crucial importance for the integration of crossed visuo-motor responses. From this paper the following conclusions can be drawn: a) epileptic patients with severe drug-resistant epilepsy due to bihemispheric cortical dysplasias are good candidates for callosotomy, b) one-stage extensive anterior callosotomy sparing the splenium is the procedure of choice, c) associated severe mental retardation seems to contra-indicate callosotomy, d) the neurophysiological study of the IHT can yield information on the functional status of the corpus callosum.
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PMID:Callosotomy for intractable epilepsy from bihemispheric cortical dysplasias. 775 63

The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation.
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PMID:Pitt-Rogers-Danks syndrome: further delineation. 776 80

'Double cortex' is a neuroblast migrational disorder characterized by a diffuse band of heterotopic grey matter between the lateral ventricles and cerebral cortex which may be normal or macrogyric. The authors report two girls with 'double cortex' syndrome presenting intractable partial epilepsy and severe mental retardation. EEG data are analysed in detail because such patients presented a particular interictal EEG background activity, not only with very stable features during the different stages of vigilance, but also uninfluenced by seizure frequency or duration. The authors raise the possibility that a further in vivo diagnostic parameter for this syndrome has been identified.
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PMID:Interictal EEG findings in two cases with 'double cortex' syndrome. 781 29

The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-q13. Rare cases result from paternal disomy. In 30% of patients, neither maternal by inherited deletion, nor paternal disomy, can be found. In this category of patients recurrence risk for sibs is high and molecular mechanisms are not completely known. They appear to be more complex than previously suggested. It is clear that this syndrome is a genetically heterogeneous group. The main example of genomic imprinting in human pathology, Angelman syndrome is now a model in research for understanding molecular mechanisms underlying imprinting.
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PMID:[Angelman syndrome]. 784 99

We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with severe mental retardation and seizures, 3 with a normal phenotype, and 1 with Prader-Willi syndrome (PWS). Through a combination of FISH and quantitative DNA analyses, three different molecular sizes of inv dup(15) were identified. The smallest inv dup(15) was positive only for the centromeric locus D15Z1 (type 1); the next size was positive for D15Z1 and D15S18 (type 2); and the largest inv dup(15) was positive for two additional copies of loci extending from D15Z1 and D15S18 through D15S12 (type 3). Type 1 or type 2 was observed in the three normal individuals and the PWS patient. Type 3 was observed in all seven individuals with mental retardation and seizures but without PWS or Angelman Syndrome (AS). The PWS patient, in addition to being mosaic for a small inv dup(15), demonstrated at D15S63 a methylation pattern consistent with maternal uniparental inheritance of the normal chromosomes 15. The results from this study show (a) two additional copies of proximal 15q loci, D15S9 through D15S12, in mentally retarded patients with an inv dup(15) but without AS or PWS and (b) no additional copies of these loci in patients with a normal phenotype or with PWS.
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PMID:Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. 794 54

The anaesthetic management of a patient with tuberous sclerosis undergoing two-stage scoliosis surgery is described. The patient suffered from severe mental retardation, seizures and facial angiofibromas. General anaesthesia using isoflurane and nitrous oxide in oxygen, supplemented with opioid analgesia and hydralazine, and labetalol to induce hypotension, appeared to be satisfactory. Postoperative recovery was delayed and complicated by pleural effusion, sputum retention and mild seizures. Tuberous sclerosis is an autosomal dominant disease well known for its neurocutaneous manifestations. Other organs such as the heart, lungs and kidneys may be involved. The potential problems in the anaesthetic management of a patient with tuberous sclerosis are discussed.
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PMID:Anaesthesia and tuberous sclerosis. 794 75

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grew older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients.
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PMID:Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? 777 2

A recently delineated childhood epilepsy has hitherto been observed only in a small geographic region in northern Finland, where, with the exception of one, both parents of all of the 11 sibships with affected individuals descend from one or two founding couples. The disease is characterized by generalized tonic-clonic seizures with onset at 5-10 years and progressive, severe mental retardation with onset 2-5 years after the first seizures. In this study the gene locus is assigned to the telomeric region of chromosome 8p by linkage. Analyses of recombinations place the locus in the 7-centimorgan interval between AFM185xb2 and D8S262 in which three markers, D8S504, D8S264, and AFM077yg5, show no recombinations with the phenotype. Haplotypes comprising alleles at the above five loci support the hypothesis of a single founding mutation for all affected chromosomes except the one belonging to the unrelated parent, who has a very different haplotype, suggesting another mutation or a very old ancestry of a single mutation. This study raises to three the number of heritable epilepsies whose gene loci have been mapped and provides a starting point for the cloning of the gene. It also suggests the possibility that the disease might not be limited to the northern Finnish population.
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PMID:The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. 804 78


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