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        west china medical publishers
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        find Author "高瑜" 2 results
        • 青少年肌陣攣癲癇基因的研究

          青少年肌陣攣癲癇(Juvenile myoclonic epilepsy, JME)是特發性癲癇中常見的癲癇綜合征, 有明顯的遺傳和表型的異質性。遺傳因素在JME發病中起重要作用, 隨著JME相關基因不斷被發現, JME在分子層面的發病機制也在不斷進展, 基因型與表現型的關系也在進一步研究。目前發現的與青少年肌陣攣癲癇相關的基因有:CACNB4、GABRa1、GABRD、EFHC1、CASR、CPA6、BRD2、Cx-36、ME2。文章主要總結JME基因及其致病機制, 同時介紹基因型和表型關系的研究進展

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        • Clinical electrophysiological features and efficacy of anti-epileptic drugs of patients with Juvenile myoclonic epilepsy

          ObjectiveTo summarize clinical electrophysiological features and efficacy of some of Anti-epileptic drugs(AEDs) of Juvenile myoclonic epilepsy (JME). MethodsClinical electrophysiological information of 101 outpatients with JME observed at Xuanwu Hospital from Jul. 2001 to Sep. 2014 was retrospectively analyzed, including the seizure types, trigger factors, electroencephalogram. We followed some of these patients and compared the efficacy between different AEDs. Result According to different seizure types, there are four subtypes: Myoclonus (MJ) only 11.88%, MJ+generalized tonic-clonic seizure(GTCS) 75.24%, MJ+GTCS+Absence(Abs) 11.88%, MJ+Abs 1.00%. Patients with typical ictal generalized poly-spike and waves (PSW) or spike and waves (SW) or spikes account for 96.80%. And 75.00% of patients have no MJ and 91.80% have no GTCS with valproic acid monotherapy. 65.00% and 88.24% of patients were seizure free of MJ and GTCS recpectively. But the difference of efficacy between these two drugs have no statistically significance. Sleep deprivation was the primary trigger factors, accounting for 16.83%. ConclusionJME has clinical heterogeinety, clinicians should fully understand the whole condition of JME individual, including their clinical manifestation, EEG features, reaction to AEDs, trigger factors, habitual patterns and so on, in order to help making individualized therapy.

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