Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.
 ...
PMID:Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 809 5

In a prospective study, antiepileptic drugs were discontinued in 264 children with epilepsy after a mean seizure-free interval of 2.9 years. They were then followed for a mean of 58 months to ascertain whether seizures recurred. Seizures recurred in 95 (36%) of the children. Etiology was a significant predictor of outcome (relative risk [RR] = 1.81). On multivariable analysis, significant factors in the idiopathic group included age at onset above 12 years (RR = 5.4), a family history of seizures (RR = 3.1), the presence of slowing on the electroencephalogram prior to medication withdrawal (RR = 2.4), and a history of atypical febrile seizures (RR = 2.8). Specific epileptic syndromes such as juvenile myoclonic epilepsy and benign rolandic epilepsy were also significant predictors of outcome. In the remote symptomatic group, significant predictors of outcome included age at onset older than 12 years (RR = 3.6), moderate to severe mental retardation (IQ < 50) (RR = 2.8), a history of atypical febrile seizures (RR = 2.0), and a history of absence seizures (RR = 0.4). The majority of children with epilepsy in remission while on antiepileptic drug therapy will remain seizure free when medications are withdrawn. A few readily available parameters distinguish those with a good prognosis from those in whom seizures are likely to recur. These data provide the framework for the clinical decision making for withdrawal of medications in these children.
 ...
PMID:Discontinuing antiepileptic drugs in children with epilepsy: a prospective study. 817 95

We report a severely mentally retarded young male with the features of the W syndrome. This syndrome, to date described in only two brothers of one family, is characterized by severe mental retardation with seizures and a pattern of facial dysmorphisms including high broad forehead, down-slanting palpebral fissures, hypertelorism, abnormal configuration of the maxilla and mandible, peculiar nose, and incomplete midline oral cleft. The face has been compared to that of a boxer (pugilistic face). Mild skeletal anomalies have also been described. Inheritance is probably X-linked. The present report corroborates the existence of this hitherto private syndrome.
 ...
PMID:A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. 828 84

Lissencephaly ("smooth brain") is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.
 ...
PMID:Clinical manifestations and evaluation of isolated lissencephaly. 830 52

We report two sibs with Angelman syndrome or an apparently new syndrome. In addition to severe mental retardation and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic facial features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis. Brain CT scan and MRI revealed ventricular enlargement and squared frontal horns. Pregnancy and delivery were uneventful. Karyotypes were normal. No deletion of chromosome 15q11-13 region was shown by molecular genetic techniques. The parents who are normal are second cousins. The condition is therefore probably inherited as an autosomal recessive one.
 ...
PMID:Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. 835 66

AS is characterized by severe mental retardation, seizures, ataxic gait and easily evoked laughter. About 70 approximately 80% of AS patients have a chromosomal/molecular deletion at 15 q11-q13, occurring exclusively in the maternally-derived chromosome 15. There have been 4 AS patients whose chromosomes 15 are paternal uniparental disomy. This biased parent-of-origin suggests that genomic imprinting may play a role in the occurrence of the syndrome. GABRB3 is located at 15 q11-q13. GABAA is a main inhibitory neurotransmitter in the central nervous system (CNS) and functions through its receptor. The beta 3 subunit, one of the components of the receptor, is present in the telephalonal cortex, hippocampus, thalamus and cerebellum, and a peak GABRB3 expression is observed during embryogenesis. This indicates that GABRB3 plays a role in CNS development, suppression of seizures and behavioral control. Since GABRB3 is encompassed within the smallest deletion among AS patients, it becomes a candidate responsible for the central nerve disturbances in AS. This smallest deletion was found in 3 AS sibs, their phenotypically normal mother and maternal grandfather in a family, suggesting that the paternally-derived deletion has no phenotypical effect in the offspring but the maternally-derived one. However, recent studies demonstrated that the mouse Gabrb3 is not involved in imprinting. The confirmation of GABRB3 to be the AS gene needs to provide direct evidence of its imprinting. Our preliminary study showed that GABRB3 was not expressed in hydatidiform mole that is composed only of the paternal genome, while it was expressed fully in normal villous tissue, suggesting that GABRB3 is paternally imprinted.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome (AS)]. 841 21

The Angelman syndrome or "happy puppet" syndrome is a disorder of severe mental retardation, seizure, paroxysms of laughter, absent speech, jerky movements and ataxic gait. We present two sibs, man and woman, with this disorder, fact that support the possible autosomal recessive inheritance as a cause of this pathology, which hereditary mechanism is still a controversial point. Besides, we can observe different expression, being the woman more severely affected than the man. To our knowledge, this is the first mexican family reported with this syndrome, and with a ten years follow up. Chromosomal studies, with high resolution technique, were normal, we did not find the 15 chromosomic deletion referred as a possible cause in some cases, that is why it is undeniable that genetic heterogeneity exists in this syndrome.
 ...
PMID:[Angelman's syndrome (happy puppet) in 2 siblings. A follow-up over 10 years]. 842 50

A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
 ...
PMID:New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. 845 40

A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity, seizures, and restricted joint motility. The patients die during infancy or early in childhood. Twenty-one family members, including two affected males, were available for study. Linkage analysis was conducted in the family by using 11 RFLP markers and 10 VNTR markers spread along the X chromosome. A hypervariable short tandem repeat of DXS294 at Xq26 showed a peak two-point lod score of 3.35 at zero recombination fraction. Calculations using the same markers revealed a multipoint peak lod score of 3.65 at DXS294. Crossover events with the centromeric marker DXS424 and the telomeric marker DXS297 delimit a probable region for the gene localization. It is noteworthy that hte disease loci of two other syndromes with overlapping clinical manifestations recently were shown by Turner et al. and Pettigrew et al. to be linked to markers at Xq26.
 ...
PMID:Linkage mapping of a severe X-linked mental retardation syndrome. 850 40

The clinical, neuroradiologic, and pathologic features of an unusual retinal and cerebral giant cell astrocytoma in a 24-year-old man with tuberous sclerosis are reported. The patient was referred at 3 years of age because of partial seizures from the first months of life, severe mental retardation, and left microphthalmos. The microphthalmic eye presented slow growth from 9 years of age and was enucleated at age 18 years because of exophthalmos and pain. At age 23 years, the patient experienced sudden and severe headache. Magnetic resonance imaging revealed a voluminous cystic tumor in the region of the foramen of Monro, lateral ventricle, and basal ganglia of the right cerebral hemisphere. Pathologic examination of the enucleated eye and of the cerebral tumor disclosed the same histologic findings in both locations, a giant cell astrocytoma.
 ...
PMID:Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors. 853 86


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>