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find Author "高瑜" 2 results
  • 青少年肌阵挛癫痫基因的研究

    青少年肌阵挛癫痫(Juvenile myoclonic epilepsy, JME)是特发性癫痫中常见的癫痫综合征, 有明显的遗传和表型的异质性。遗传因素在JME发病中起重要作用, 随着JME相关基因不断被发现, JME在分子层面的发病机制也在不断进展, 基因型与表现型的关系也在进一步研究。目前发现的与青少年肌阵挛癫痫相关的基因有:CACNB4、GABRa1、GABRD、EFHC1、CASR、CPA6、BRD2、Cx-36、ME2。文章主要总结JME基因及其致病机制, 同时介绍基因型和表型关系的研究进展

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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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