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)

'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

Severe myoclonic epilepsy in infancy, or Dravet syndrome, is one of the catastrophic epilepsy syndromes. In the past, treatment was mainly based on valproate and phenobarbital. Recently, some of the new antiepilepsy drugs, such as topiramate and stiripentol, have been shown to be promising in the treatment of this epilepsy syndrome. The treatment regimen of 12 children with Dravet syndrome and proven mutations in the alpha subunit of the sodium channel SCN1A is reported here. Five patients on the "traditional" treatment regimen are compared with seven children on an "optimal" treatment regimen based on a combination of valproate and topiramate. With respect to the literature and our own experience, we propose guidelines for "optimal" treatment of children with severe myoclonic epilepsy in infancy. This includes prevention of hyperthermia, rigorous treatment of fever, avoiding stressful situations, maintenance treatment based on a combination of only two antiepilepsy drugs (ie, valproate and topiramate), and a strict acute seizure treatment based on benzodiazepines. To prevent long-lasting periods of status epilepticus, this acute seizure treatment must be taught to parents and caregivers.
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PMID:Severe myoclonic epilepsy in infancy: toward an optimal treatment. 1552 56

Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention to the symptoms of onset. All the patients received at least one formal cognitive and behavior evaluation. Epilepsy started at a mean age of 5.7 months; the onset was marked by isolated seizure in 25 infants, and by status epilepticus in 12; the first seizure had been triggered by fever, mostly of low degree in 22 infants; the first EEG was normal in all cases. During the second year of life difficult-to-treat seizures recurred, mostly triggered by fever, hot bath, and intermittent lights and delay in psychomotor development became evident. At the last evaluation, performed at a mean age of 16+/-6.9 years, mental retardation was present in 33 patients, associated with behavior disorders in 21. Our data indicate that the most striking features of SMEI are: the early onset of seizures in a previously healthy child, the long duration of the first seizure, the presence of focal ictal symptoms, and sensitivity to low-grade fever. Diagnosis of SMEI may be proposed by the end of the first year of life, and a definite diagnosis can be established during the second year based on the peculiar seizure-favoring factors, EEG photosensitivity and psychomotor slowing. The temporal correlation between high seizure frequency and cognitive impairment support the role of epilepsy in the clinical outcome, even if a role of channelopathy cannot be ruled out.
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PMID:Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. 1985

Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral, clonic or tonic-clonic seizures that occur in the first year of life in an otherwise apparently normal infant. They are later associated with myoclonus, atypical absences, and partial seizures. Developmental delay becomes apparent within the second year of life and is followed by definite cognitive impairment and personality disorders of variable intensity. In the borderline form, children do not present with myoclonic symptoms but have the same general picture. SMEI is a channelopathy and the genetic studies have shown a mutation in the SCN1A gene in 70 to 80% of the patients, including the borderline forms. At present, there are no well-established correlations between genotype and phenotype. The electroencephalograms, often normal at the onset, display both generalized and focal anomalies, without a specific electroencephalographic pattern. As a rule, neuroimaging is normal. All seizure types are resistant to antiepileptic drugs and status epilepticus is frequent. Some drugs have been shown to aggravate the seizures and must be avoided. Two recent drugs have been proved to partially control the convulsive seizures and the status epilepticus. Therefore, it is crucial to diagnose this epilepsy soon after its onset in order to prescribe the most appropriate treatment.
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PMID:Dravet syndrome (severe myoclonic epilepsy in infancy). 2362 10