von Podewils Felix, Kowoll Victoria, Schroeder Winnie, Geithner Julia, Wang Zhong I, Gaida Bernadette, Bombach Paula, Kessler Christof, Felbor Ute, Runge Uwe
Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
Epilepsy Behav. 2015 Mar;44:61-6. doi: 10.1016/j.yebeh.2014.12.016. Epub 2015 Jan 24.
This study aimed to determine the contribution of EFHC1 variants to the phenotypic variability of juvenile myoclonic epilepsy (JME) and to evaluate their diagnostic value regarding previously identified clinical long-term seizure outcome predictors in a consecutive cohort of patients with JME.
Thirty-eight probands and three family members affected with JME were studied at a tertiary epilepsy center with a review of their medical records and a subsequent face-to-face interview. All coding EFHC1 exons and adjacent exon/intron boundaries were directly sequenced.
The previously reported EFHC1 mutation F229L was found in two cases who presented with early generalized tonic-clonic seizure (GTCS) onset and appeared to be associated with milder subtypes of JME. Variant R294H was identified in two further probands who had a subtype of JME developing from childhood absence epilepsy. However, segregation of the phenotype with this variant could not be confirmed in one family.
Our findings corroborate the heterogeneity of JME as an electroclinical epilepsy syndrome and provide evidence that genetic factors may influence and help predict the long-term seizure outcome in patients with JME.
本研究旨在确定EFHC1基因变异对青少年肌阵挛癫痫（JME）表型变异性的影响，并评估其在一组连续的JME患者中，对于先前确定的临床长期癫痫发作结局预测指标的诊断价值。
在一家三级癫痫中心对38例JME先证者和3名受影响的家庭成员进行了研究，回顾了他们的病历并随后进行了面对面访谈。对所有编码EFHC1的外显子和相邻的外显子/内含子边界进行直接测序。
在两例早期出现全面性强直阵挛发作（GTCS）的患者中发现了先前报道的EFHC1突变F229L，这似乎与JME的较轻亚型有关。在另外两名先证者中鉴定出变异R294H，他们的JME亚型是由儿童失神癫痫发展而来。然而，在一个家族中无法证实该变异与表型的共分离。
我们的研究结果证实了JME作为一种电临床癫痫综合征的异质性，并提供了证据表明遗传因素可能影响并有助于预测JME患者的长期癫痫发作结局。
