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find Keyword "青少年肌阵挛癫痫" 4 results
  • 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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  • 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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  • Retrospective analysis of juvenile myoclonic epilepsy in Xinjiang

    Objective To retrospectively analyze the epidemiology, clinical characteristics and causes of misdiagnosis of Juvenile myoclonic epilepsy (JME) in Xinjiang Uygur Autonomous Region, so as to provide basis for improving the diagnosis and treatment of JME. Methods 979 patients with epilepsy in Xinjiang Uygur Autonomous Region were analyzed retrospectively. There.were515males and 464females,average.age(18.66+8.31)years,.The epidemiological characteristics of JME were analyzed. The clinical characteristics, EEG, treatment effect and prognosis of patients diagnosed with JME were analyzed. The causes of misdiagnosis, missed diagnosis and delayed treatment were analyzed. Results The proportion of JME in 979 patients with epilepsy was 1.4%, a total of 14 cases. The median age of onset was (15+5.83) years, the median time from onset to treatment was 3 years, and the median time from onset to diagnosis was 6 years. All patients showed myoclonic seizures, 13 cases were complicated with generalized tonic clonic seizures, and 4 cases were accompanied by absence seizures. EEG findings include normal background activity, 3-6 Hz generalized spikes or frontal dominant multiple spikes at the beginning of arousal. seven patients were treated with levetiracetam, and the other seven patients were treated with lamotrigine and / or sodium valproate. Incomplete collection of medical history and failure to describe the medical history in detail are the main reasons for delaying diagnosis. Conclusion Juvenile myoclonic epilepsy is an treatable disease, but it is easy to be misdiagnosed. The rate of misdiagnosis and missed diagnosis of JME in Xinjiang is higher, and the delay of diagnosis and treatment is longer. The inquiry of more detailed and demonstrative medical history is of great significance to improve the diagnostic accuracy.

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  • Analysis of clinical characteristics, neuroimaging, diagnosis and treatment process of inpatients with juvenile myoclonic epilepsy

    ObjectiveTo explore the clinical characteristics, neuroimaging, diagnosis and treatment process of inpatients with Juvenile Myoclonic Epilepsy (JME).Methods83 inpatients with JME in the Epilepsy Center of Lanzhou University Second Hospital from January 2016 to August 2020 were analyzed retrospectively. Their clinical features, seizure types, inducing factors, MRI and EEG, first consultation hospital, reason for visit and drug treatment were summarized.ResultsAmong the 83 patients, there were 43 males and 40 females, with an average age of (18±5.6) years. 21 patients had family history of epilepsy or history of febrile convulsion. the average age of onset was 11.5 years old, which was earlier than those without family history and history of febrile convulsion (P<0.05). The results of cranial nuclear magnetic resonance examination were abnormal in 14 patients, including hippocampal sclerosis and local small cysts. The first symptom of 62.7% JME patients is myoclonic seizures, followed by tonic-clonic seizures, sleep deprivation was the most common inducing factor, and tonic-clonic seizures was the most common cause of treatment in JME patients, accounting for 78.3%. 80.7% of patients choose local primary hospitals for their first consultation, and there was a non-standard use of ASMs in treatment, and the seizure free rate of epilepsy after ASMs treatment was 6%, which was lower than that in provincial hospitals (P<0.05). 88% of JME inpatients can effectively control their seizures through monotherapy, among which valproic acid is the most commonly used monotherapy and combination therapy. The new oral ASMs lamotrigine and levetiracetam tablets were mostly used in female patients.ConclusionA family history of epilepsy and history of febrile convulsion may be associated with an earlier age of onset in patients with JME. Neuroimaging abnormalities can be found in a small number of patients with JME, including hippocampal sclerosis and local small cysts. Tonic-clonic seizures is the main treatment cause of JME patients, and most of them are first diagnosed in local hospitals, but the seizure free rate of epilepsy in local hospitals after ASMs treatment is low, so the training of epilepsy related knowledge for doctors in primary hospitals is helpful to the diagnosis of clinical JME and improve its control rate.

    Release date:2021-08-30 02:33 Export PDF Favorites Scan
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