Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies
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چکیده
منابع مشابه
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies
BACKGROUND Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sig...
متن کاملClinical genetic study in juvenile myoclonic epilepsy
PURPOSE To evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME. METHOD Thirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members. RESULTS All probands had myoclonic a...
متن کاملGenetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.
The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathi...
متن کاملMyoclonic status epilepticus in juvenile myoclonic epilepsy.
BACKGROUND Myoclonic status epilepticus (MSE) is rarely found in juvenile myoclonic epilepsy (JME) and its clinical features are not well described. We aimed to analyze MSE incidence, precipitating factors and clinical course by studying patients with JME from a large outpatient epilepsy clinic. METHODS We retrospectively screened all patients with JME treated at the Department of Neurology, ...
متن کاملJuvenile myoclonic epilepsy.
2. In treatment of juvenile myoclonic epilepsy, the following is true except: a. Phenobarbitone is an effective treatment for generalized tonic seizures and myoclonic seizures b. Lamotrigine exaggerates myoclonic seizures in 50% of patients c. Levetiracetam has potent antimyoclonic effects d. Life long treatment with a proper AED is recommended for juvenile myoclonic epilepsy e. Pregabalin is a...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0179629