Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Selecting a specific antiepileptic drug for the treatment of seizures in those with mental retardation requires a balance of the drug's likely efficacy for both seizures and comorbid disorders versus adverse events. Phenobarbital is the most commonly used of the barbiturate drugs. Phenytoin is actually one of the best tolerated AEDs (side effects in most patients are signs of neurotoxicity). Carbamazepine is the drug of choice for many neurologists for the treatment of partial epilepsy, with a relative lack of sedation and low incidence of cosmetic, cognitive, and behavioral side effects. For more than 30 years, valproate has been available for treatment of generalized and partial seizures, convulsive or nonconvulsive. For this reason, it is used in the treatment of epilepsy in the multiply handicapped and mentally retarded. Benzodiazepines are the drug of choice for treatment of status epilepticus; however, good medical control requires early diagnosis and treatment.
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PMID:Treatment considerations: traditional antiepileptic drugs. 1260 8

Succinic semialdehyde dehydrogenase deficiency is a rare disorder of the degradation pathway of gamma-aminobutyric acid. The disorder is detected when 4-hydroxybutyric aciduria is present on urine organic acid analysis, and is subsequently confirmed by enzyme measurement on leucocytes. The disorder has been identified in approximately 350 individuals worldwide. We review the clinical features in 60 patients. The most common characteristics are developmental delay maximally involving expressive language, hypotonia, mental retardation, ataxia, and behavioral problems. Seizures occur in approximately half of patients, and include tonic-clonic, absence, and myoclonic seizures, including status epilepticus. Electroencephalographic findings are background slowing and generalized and focal epileptiform discharges. Magnetic resonance imaging typically reveals increased T2-weighted signal of the globus pallidus bilaterally, with variable involvement of white matter and the cerebellar dentate nucleus. Preliminary human cerebrospinal fluid measurements are consistent with neurometabolic aberrations documented in the murine animal model, with elevations in gamma-aminobutyric acid, gamma-hydroxybutyrate, and homocarnosine, and low glutamine. Succinic semialdehyde dehydrogenase deficiency may be an underrecognized neurometabolic disorder with a nonspecific and wide phenotypic spectrum, and carries implications for a comprehensive fundamental understanding of interrelations between multiple neurotransmitter systems.
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PMID:Succinic semialdehyde dehydrogenase deficiency in children and adults. 1289 57

We report on a 50-year-old man with mental retardation and right-sided hemi-paresis. He seemed to be cured from epilepsy. In a short time a mental and physical deterioration developed which looked like a dementia, which was suggested by vascular risk factors. The EEG showed marked epileptic activity characterized by spikes appearing every 10 seconds over the left temporal lobe. After introduction of carbamazepine, a fast and long-term improvement of symptoms was noticed resulting in self sufficiency. The fast and marked effect of an antiepileptic drug being given to the patient with an non-typical reactivation of epilepsy in which the dementia-syndrome was caused by a transitory cognitive impairment due to sub-clinic electric seizures or non-convulsive status epilepticus.
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PMID:[Atypical epilepsy symptomatology as cause of a dementia like state in a mentally and physically retarded patient]. 1499 95

'Severe myoclonic epilepsy in infancy' or Dravet syndrome is a clear example of the impact of severe epilepsy on the developing child. Presenting with febrile seizures in infancy, children later on develop a severe epileptic syndrome with mental retardation. Nearly all children have life-threatening status epilepticus during the first two years of life. The clinical diagnosis can now be confirmed by DNA-analysis in a majority of patients. Most patients have a de novo mutation in the alfa subunit of the neuronal sodium channel SCN1A. In the past few years' treatment of severe myoclonic epilepsy in infancy has changed. Prevention of seizures, avoiding anti-epileptic drugs which only block sodium channels, a simple combination of two major anti-epileptic drugs (sodium valproate and topiramate) and a strict acute seizure treatment significantly improve the quality of life for these patients. Long-term follow up is necessary to evaluate if we can also improve the development possibilities for these children.
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PMID:"Severe myoclonic epilepsy in infancy". Relevance for the clinician of severe epilepsy starting in infancy. 1550 61

Clusters of seizures, prolonged seizures, and status epilepticus occur more frequently in children with multiple disabilities, and chronic seizures are more likely to be refractory to treatment. In many patients, the seizures appear to contribute to the mental retardation. Thus, if the lives of these children are to improve, seizure control is essential. However, medical treatment can interfere with cognition and cause behavioral disturbances, making life very difficult for the child and the child's family. With the introduction of 10 new antiepileptic drugs in the last decade, the treatment of epilepsy in multiply handicapped children has significantly advanced. These new antiepileptic drugs may improve seizure control, medication tolerance, or both. Although the ultimate therapeutic goal is to keep children seizure free and alert, compromises regarding medication choice and dosage are still necessary in many cases. Novel treatment options, such as the vagus nerve stimulator, may decrease seizure frequency without behavioral or cognitive side effects. In carefully selected children with specific epilepsy syndromes, epilepsy surgery can provide partial or complete relief from seizures.
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PMID:Management of epilepsy in mentally retarded children using the newer antiepileptic drugs, vagus nerve stimulation, and surgery. 1552 71

Fragile X syndrome (Fra-X) is a common cause of mental retardation that can be associated with partial epilepsy characterized by a variety of electro-clinical features. A wide spectrum of interictal activities are reported, although no data regarding ictal EEG activity have as yet been published. Drug-resistant seizures are uncommon, and the occurrence of clustering seizures or status epilepticus has only been reported anecdotally. We describe a Fra-X patient with refractory partial epilepsy related to a malformation of cortical development who experienced a partial status epilepticus that was well documented by video-EEG and MRI. We report the electro-clinical features and peri-ictal neuroimaging data.
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PMID:Status epilepticus in a patient with fragile X syndrome: electro-clinical features and peri-ictal neuroimaging. 1698 40

Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31(1/2) years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum-Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the premature aging, but why patients with mutations in xeroderma pigmentosum genes present with the Cockayne syndrome phenotype is still not known.
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PMID:Cockayne syndrome in adults: review with clinical and pathologic study of a new case. 1709 72

The aim of this retrospective study was to determine the risk factors associated with intractability to therapy in childhood epilepsy. Fifty children with intractable epilepsy as evidenced by at least 1 epileptic fit per month were included in the study group, whereas the control group consisted of children who did not experience any recurrent seizure for at least 1 year at the time of the study. A chi( 2) test was used to evaluate the relationship between the test variables for the 2 groups, and the estimated relative risk (odds ratio) for each variable was calculated. The risk factors were subsequently determined by logistic multiple regression analysis. Univariate analysis showed that mental retardation, neurological abnormality, neuroradiological abnormality, perinatal anoxia, neonatal convulsion, presence of status epilepticus, and symptomatic etiology were significant risk factors for the development of refractory epilepsy (P < .05). For multivariate logistic regression analysis, age at seizure onset, status epilepticus, mixed type of seizures, and history of frequent seizures (more than once a month) were all found to be significant and independent risk factors for refractory epilepsy, and the number of drugs used in the study group was significantly higher than that in the control group (P < .05). In line with these findings, it was concluded that children who present with epilepsy and have these risk factors should be referred to a center where epileptic surgery is carried out without delay.
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PMID:Risk factors predicting refractoriness in epileptic children with partial seizures. 1762 81

The aim of this study is to determine the prognosis of patients with seizure onset from 1 to 24 months of age in respect to epilepsy, developmental outcome, and neurological status. It also aims to determine predictive factors regarding an unfavorable prognosis. Seventy-five patients were retrospectively analyzed. Univariate analysis revealed the following findings: (1) mental retardation at initial admission, abnormal neurological finding, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on electroencephalography (EEG) of neonatal seizure, and perinatal anoxia were significant risk factors with regard to developmental outcome; (2) mental retardation at initial admission, abnormal neurological finding, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on EEG, symptomatic etiology, history of neonatal seizure, and perinatal anoxia were significant risk factors regarding neurological status; and (3) mental retardation at initial admission, neurological abnormality, infantile spasm, use of more than 1 antiepileptic drug, epileptic activity on EEG, status epilepticus, symptomatic etiology, seizure frequency of more than once per week, history of perinatal anoxia, and neonatal seizure were significant risk factors regarding epilepsy prognosis. In addition, multivariate analysis revealed that neurological abnormality and use of more than 1 antiepileptic drug were significant for developmental outcome, that epileptic activity on EEG and use of more than 1 antiepileptic drug were significant for neurological status, and that perinatal anoxia, infantile spasm, and status epilepticus were significant for epilepsy prognosis. These findings suggest that neurological abnormality, use of more than 1 antiepileptic drug, infantile spasm, status epilepticus, and perinatal anoxia are unfavorable predictive risk factors regarding the prognosis of patients with seizures that have an onset from 1 to 24 months of age.
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PMID:Prognosis of patients with seizures occurring in the first 2 years. 1762 1

Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include mental retardation, epilepsy, growth delay, and craniofacial dysgenesis. The disorder is caused by subtelomeric deletions in the short arm of chromosome 4. The syndrome, as described in the literature, may have a progression to resistant seizures and status epilepticus, which may then exhibit specific electroencephalographic findings. This study investigates a 3-year-old girl presenting with the classic phenotype for Wolf-Hirschhorn syndrome, confirmed by fluorescence in situ hybridization. Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome.
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PMID:A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy. 1767 32


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