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)

Recently the usage of diazepam as an anticonvulsant has been reduced. But, in this report, the effect of diazepam in the treatment of infantile spasms and intractable epilepsies were reported. Single high-dose oral administration of diazepam at bedtime was tried to the patients with intractable seizures. There were good responses to the therapy of partial seizures and infantile spasms basically escaping from hypsarhythmia. The therapeutic range of blood concentration was not decided, but probably the following values are necessary; over 200 nl/ml for partial seizures and over 300 ng/ml for infantile spasms 2 hours after the administration. Plasma level of diazepam during the daytime was very low, but the seizures were controlled sufficiently.
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PMID:[Administration of a single oral high-dose of diazepam at bedtime as therapy for intractable seizures]. 757 80

The authors describe the clinical and radiological features in 3 children with a diffuse hemispheric dysembryoplastic neuroepithelial tumor (DNET) presenting with severe epilepsy and a previously unreported and characteristic MR imaging appearance. The DNET is a well-recognized cause of focal epilepsy, usually with a very good response to resection. These tumors are usually intracortical, and most commonly arise in the temporal lobe or frontal lobes. Radiologically they are usually sharply demarcated, and show little contrast enhancement. Three children (2 boys and 1 girl) presented at 14, 17, and 22 months of age with epileptic seizures. The seizures were focal motor or complex focal. One patient had epileptic spasms. The response to antiepileptic drug therapy was poor. Motor and cognitive development was delayed in all patients. One patient developed a severe epileptic encephalopathy, with regression of motor and cognitive skills. Her electroencephalogram obtained at that time showed hypsarhythmia. Admission MR imaging showed a diffuse unilateral abnormality involving frontal, temporal, and parietal lobes with little or no mass effect. There was involvement of both gray and white matter, with a striking sparing of the internal capsule in spite of apparent tumor throughout the basal ganglia and thalamus. In 2 patients there was prominent expansion of cortical gyri by tumor. In 1 child the initial radiological diagnosis was a middle cerebral artery infarct. On subsequent review the radiological diagnosis was thought to be low-grade glioma in all patients. The first patient underwent 2 limited resections involving the temporal lobe. He has continued to have poorly controlled seizures and severe behavioral and cognitive problems. The other patients had subtotal resection to the level of the internal capsule. One patient is currently seizure free 24 months postsurgery, but remains cognitively impaired. The patient in Case 3 is having some seizures 3.5 years postsurgery and remains hemiplegic, but the regression has reversed and she is making steady developmental progress. The pathological specimens showed the typical features of a DNET in all cases. This striking radiological pattern has not previously been described as a feature of a DNET. Recognition of this radiological pattern in young children with epilepsy will allow early consideration for resection, which may lead to improved long-term cognitive outcome.
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PMID:Diffuse hemispheric dysembryoplastic neuroepithelial tumor: a new radiological variant associated with early-onset severe epilepsy. 2145 16

Prenatal exposure to corticosteroids has long-term postnatal somatic and neurodevelopmental consequences. Animal studies indicate that corticosteroid exposure-associated alterations in the nervous system include hypothalamic function. Infants with infantile spasms, a devastating epileptic syndrome of infancy with characteristic spastic seizures, chaotic irregular waves on interictal electroencephalogram (hypsarhythmia) and mental deterioration, have decreased concentrations of adrenocorticotrophic hormone (ACTH) and cortisol in cerebrospinal fluid, strongly suggesting hypothalamic dysfunction. We have exploited this feature to develop a model of human infantile spasms by using repeated prenatal exposure to betamethasone and a postnatal trigger of developmentally relevant spasms with NMDA. The spasms triggered in prenatally primed rats are more severe compared to prenatally saline-injected ones and respond to ACTH, a treatment of choice for infantile spasms in humans. Using autoradiography and immunohistochemistry, we have identified a link between the spasms in our model and the hypothalamus, especially the arcuate nucleus. Transcriptomic analysis of the arcuate nucleus after prenatal priming with betamethasone but before trigger of spasms indicates that prenatal betamethasone exposure down-regulates genes encoding several important proteins participating in glutamatergic and GABAergic transmission. Interestingly, there were significant sex-specific alterations after prenatal betamethasone in synapse-related gene expression but no such sex differences were found in prenatally saline-injected controls. A pairwise relevance analysis revealed that, although the synapse gene expression in controls was independent of sex, these genes form topologically distinct gene fabrics in males and females and these fabrics are altered by betamethasone in a sex-specific manner. These findings may explain the sex differences with respect to both normal behaviour and the occurrence and severity of infantile spasms. Changes in transcript expression and their coordination may contribute to a molecular substrate of permanent neurodevelopmental changes (including infantile spasms) found after prenatal exposure to corticosteroids.
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PMID:Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: insights from a novel animal model of infantile spasms. 2376 71

Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed. Result: The boy is the second child of healthy and nonconsanguineous parents.At 7 months, he started to have seizures with head dropping, and he was brought for the first time to our hospital at the age of 17 months.The patient presented with severe psychomotor retardation, epilepsy, muscular hypotonia, and electroencephalography showed hypsarhythmia.He received 28 days of adrenocorticotropic hormone (ACTH) therapy.After that, his seizures were improved with valproic acid and levetiracetam, and disappeared between 3 years and 5 months to 5 years and 5 months of age on treatment with valproic acid only.Exome-sequencing study (trios) identified novel heterozygous mutation c. 443A>G (p.Glu148Arg) in DNM1. Up to now, 9 cases of epileptic encephalopathy (infantile spasms or Lennox-Gastaut syndrome) associated with de novo DNM1 gene mutations have been reported. Conclusion: The main clinical features of DNM1 mutations include intractable seizures, intellectual disability, developmental delay, hypotonia, and developmental delay before the onset of seizures.
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PMID:[Dynamin-1-related infantile spasms: a case report and review of literature]. 2780 96


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