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 is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).
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PMID:A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). 29 Apr 27

A Japanese girl with incontinentia pigmenti had characteristic skin lesions at birth. The diagnosis was confirmed by skin biopsy and positive family history. Her mother and sisters also suffered from IP. She had generalized tonic seizures at 1 month of age, and infantile spasms at 7 months. ACTH therapy was very effective to infantile spasms. At 9 years now, she is suffering from atypical absence, mild mental retardation and mild left hemiparesis. MRI revealed marked atrophy of the cerebral white matter predominantly around the posterior horn of right lateral ventricle, cystic lesions in the white matter around the anterior horns of both lateral ventricles, which were not clear by CT scan, and atrophy of the right cerebral peduncle and pontine basis. Although these findings are non-specific, they may be clues which explicate the mechanism of central nervous system involvement in incontinentia pigmenti.
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PMID:[Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis]. 204 71

We describe 15 patients with incontinentia pigmenti whom we have followed up from two to 11 years. This longitudinal approach allowed us to observe the course of the skin lesions and developmental progress of these children. We found that in contrast to what has been previously reported in most of the literature, the bullous and verrucous lesions do not always resolve during the first or second year of life and may recur throughout childhood. Although most patients with incontinentia pigmenti are of normal intelligence, those with neonatal seizures have a poor prognosis for normal development.
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PMID:Incontinentia pigmenti. A longitudinal study. 240 93

Adrenergic-stimulated phosphatidylinositol (PI) hydrolysis was measured in cortical slices obtained from adult rats following electroconvulsive seizures (ECS). One group of animals received ECS daily for 15 days and a second group received a single ECS. Rats were then sacrificed at intervals of 15 min, 60 min, 4 h, and 24 h after the last ECS. Inositol 1-monophosphate (IP1) accumulation was transiently reduced (20%, P less than 0.01), at 15 min, in repeatedly shocked versus sham-shocked control animals. No changes were observed at later intervals nor at any time in rats submitted to a single ECS. These findings suggest that repeated but not single convulsive seizures transiently desensitize adrenergic-mediated PI metabolism. Although repeated ECS significantly increased the density (Bmax) of alpha 1 recognition sites in cortical slices at 15 min, 4 h, and 24 h, this upregulation was not coupled to a functional change in PI hydrolysis.
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PMID:Effect of repeated versus single electroconvulsive seizures on adrenergic-mediated phosphatidylinositol hydrolysis in rat neocortex. 254 90

We recently demonstrated that a long-lasting increase in ibotenate-stimulated polyphosphoinositide (PPI) hydrolysis in the amygdala/pyriform cortex (AM/PC) is associated with seizure susceptibility of amygdala (AM)-kindled rats. The present study examined (1) whether ibotenate-stimulated PPI hydrolysis would be lastingly enhanced in the hippocampus (HIPP) and AM/PC of the HIPP-kindled rats and (2) whether similar changes would be found in the early stage of HIPP kindling. Although ibotenate-stimulated accumulation of [3H]inositol 1-phosphate ([ 3H]IP1) increased significantly in the HIPP 24 h, 5 days, and 15 days after the last seizure of fully developed HIPP-kindled rats, no statistically significant increase was found in the HIPP 30 days after the last seizure. In the AM/PC, 10(-3) M ibotenate-stimulated [3H]IP1 accumulation significantly increased by 91%, 91%, 86% and 90%, 24 h, 5 days, 15 days and 30 days after the last seizure, respectively. There was no significant increase in ibotenate-stimulated [3H]IP1 accumulation 7 days after the last stimulation in the HIPP and AM/PC of rats which had undergone electrical stimulation only 5 times in the HIPP. These results indicate that (1) PPI hydrolysis coupled to excitatory amino acid receptors increases long-lastingly in the AM/PC regardless of the primary kindled site, and (2) these changes do not occur in the early stage of HIPP-kindling.
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PMID:Hippocampal kindling enhances excitatory amino acid receptor-mediated polyphosphoinositide hydrolysis in the hippocampus and amygdala/pyriform cortex. 254 98

Effects of atropine or diazepam pretreatment on soman-induced convulsions and brain phosphoinositide (PI) metabolism, as assessed by brain regional inositol-1-phosphate (IP1) levels, were studied in saline and LiCl-pretreated rats. IP1, an intermediate in PI turnover, was measured in cortex, caudate, thalamus, hippocampus, and cerebellum. Soman (100 micrograms/kg; sc) produced convulsions in 63% of the saline-pretreated rats, whereas with LiCl pretreatment all rats exposed to 100 micrograms/kg of soman had tonic-clonic convulsions. Thus, LiCl pretreatment potentiated soman-induced convulsions. Tissue IP1 increased severalfold in soman-exposed convulsing rats with the highest increases being in frontal cortex and caudate. In contrast, no marked increases of IP1 occurred in similarly treated nonconvulsing rats. LiCl treatment itself increased IP1 levels without causing convulsions. In LiCl-pretreated rats, soman again markedly elevated IP1 levels above LiCl alone in convulsing rats, whereas no such effect occurred in nonconvulsing rats. In LiCl-pretreated rats, the increased IP1 levels associated with soman-induced convulsions were greatest in hippocampus and piriform cortex. Thus, LiCl appears to lower the threshold for the spread of seizure activity through limbic structures, thereby potentiating cholinergic-induced convulsions. Diazepam and atropine both blocked soman-induced convulsions, and brain regional IP1 elevations were concomitantly abolished as well. These results indicate that soman-induced convulsions involve the inositol lipid signaling system. This involvement is potentiated by lithium but attenuated by atropine and diazepam.
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PMID:Soman-induced convulsions affect the inositol lipid signaling system: potentiation by lithium; attenuation by atropine and diazepam. 284 36

We found that the binding of [3H]prazosin, a selective ligand for alpha 1-adrenergic recognition sites, is significantly lower in the frontal cortex of the genetically epilepsy-prone rats (GEPRs), as compared with normal Sprague-Dawley rats. Scatchard analysis reveals a decrease in the Bmax of [3H]prazosin binding with no change in the apparent KD, suggesting that there are fewer alpha 1-adrenergic recognition sites in the frontal cortex of the GEPR. This abnormality is associated with a reduced capacity of norepinephrine (NE) to stimulate [3H]inositol monophosphate ([3H]IP1) formation in frontal cortex slices prelabeled with [3H]inositol. No significant differences in [3H]prazosin binding as well as NE-stimulated [3H]IP1 formation have been observed in other brain regions including hippocampus, corpus striatum, and inferior colliculus. These results indicate that a deficit in the alpha 1-adrenergic receptor system in the frontal cortex may play a role in the seizure process in the GEPR.
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PMID:Abnormality of alpha 1-adrenergic receptors in the frontal cortex of epileptic rats. 299 35

A female infant showing linear skin lesions arranged in an irregular way with bullae, vesicles, and erythema, which had predominantly affected her extremities since her birth, was examined by us at the age of one week. Histologic and immunofluorescence findings confirmed the preliminary diagnosis of incontinentia pigmenti. Electron microscopic investigations were additionally made. In the course of the disease, we observed the characteristic development of a warty and a pigmented stage. The disease was complicated by epileptic seizures, motor disturbances, and ocular defects. EEG, CT, and ultrasound revealed anomalies. Since her mother reports on similar skin lesions during her own childhood, we suspect an X-chromosomal genetic defect.
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PMID:[Bloch-Sulzberger incontinentia pigmenti with associated neurologic and ophthalmologic complications]. 318 3

Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.
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PMID:Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. 346 61

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69


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