Clinical genetic study in juvenile myoclonic epilepsy
Clinical genetic study in juvenile myoclonic epilepsy
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DOI：
10.1016/j.seizure.2014.07.011
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发表时间：
2014-11-01
影响因子：
3
通讯作者：
Kuzmanovski, Igor
中科院分区：
文献类型：
--
作者：
Cvetkovska, Emilija;Panov, Sasho;Kuzmanovski, Igor
目的：为了解青少年肌阵挛性癫痫（juvenile myoclonic epilepsy，JME）先证者及其家系成员的临床特征，探讨JME的临床遗传学特征。方法：选取13个无血缘关系的家系，至少有2名成员有癫痫发作史，收集JME先证者及其家系成员的临床资料和家系资料。所有先证者均有肌阵挛和全身强直阵挛发作（GTCS），其中25%的患者出现失神。癫痫发作的平均年龄为13岁。13个家系22人有癫痫发作史，平均发病年龄18岁。10名家庭成员有JME，3名癫痫伴GTCS，2名青少年失神癫痫，1名成人发作性肌阵挛癫痫，6名受影响的个体有未分类的癫痫类型。在5个家系中，JME是唯一的临床特征。JME在兄弟姐妹中占主导地位，而表型异质性在第二和第三级亲属中观察到。在三个多代家庭中，成年发病的遗传性全身性癫痫（GGE）的成员被identified.Conclusion：我们发现表型异质性癫痫类型和癫痫发作的年龄。使用系谱分析，我们没有发现任何证据的优惠母性或任何其他独特的遗传模式。需要进一步的研究来证实和澄清这些结果。(C)2014年英国癫痫协会。由爱思唯尔有限公司出版。保留所有权利。
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 and generalized tonic clonic seizures (GTCS), while absences occurred in 25% of them. The average age of seizure onset was 13 years. Totally 22 members from 13 families had history of seizures with average age of seizure onset at 18 years. Ten family members had JME, three had epilepsy with GTCS, two had juvenile absence epilepsy, one had adult onset myoclonic epilepsy and six of the affected individuals had unclassified type of epilepsy. In five families, JME was the solely clinical feature. JME dominated among siblings, while phenotypic heterogeneity was observed in second and third degree relatives. In three multi-generation families, members with adult onset genetic generalized epilepsies (GGE) were identified.Conclusion: We found phenotypic heterogeneity regarding epilepsy type and age of seizure onset. Using pedigree analysis, we found no evidence for preferential maternal or any other distinctive inheritance pattern. Further study is needed to confirm and clarify the results. (C) 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.