KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

IshiiA.; MiyajimaT.; KurahashiH.; WangJ.-W.; YasumotoS.; KanekoS.; HiroseS.

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KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

机译：BECTS中的KCNQ2异常：良性新生儿癫痫发作（由KCNQ2突变引起）后出现良性儿童癫痫病，出现中央颞叶尖峰

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The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.

机译：儿童良性癫痫的中央时空尖峰（BECTS）的分子发病机制仍不清楚，而KCNQ2和KCNQ3基因的突变已被鉴定为良性家族性新生儿惊厥的原因。我们在这里报告了一名患有良性新生儿惊厥的女孩，其次是BECTS，已为其鉴定出KCNQ2突变。这种情况可能为了解BECTS分子发病机理提供线索。

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《Epilepsy research》 |2012年第2期|共4页
作者
IshiiA.; MiyajimaT.; KurahashiH.; WangJ.-W.; YasumotoS.; KanekoS.; HiroseS.;
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正文语种 eng
中图分类神经病学;
关键词
BECTS; BFNC; Channelopathy; Genetics; Rolandic discharge;

机译：BECTS;BFNC;通道病;遗传学;Rolandic放电;

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专利

1. KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2 [J] . IshiiA., MiyajimaT., KurahashiH., Epilepsy research . 2012,第1a2期

机译：BECTS中的KCNQ2异常：良性新生儿癫痫发作（由KCNQ2突变引起）后出现良性儿童癫痫病，出现中央颞叶尖峰
2. Hemispheric lateralization of microstructural white matter abnormalities in children with active benign childhood epilepsy with centrotemporal spikes (BECTS): A preliminary DTI study [J] . XiaoF., ChenQ., YuX., Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2014,第1a2期

机译：用Centrotemporal尖刺患儿微观儿童癫痫患儿微观状白质异常的半球横向化（BECTS）：初步DTI研究
3. Hemispheric lateralization of microstructural white matter abnormalities in children with active benign childhood epilepsy with centrotemporal spikes (BECTS): A preliminary DTI study [J] . XiaoF., ChenQ., YuX., Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2014,第1a2期

机译：DTI初步研究：患有活动性良性儿童癫痫病且有中央颞尖峰（BECTS）的儿童半结构白质异常的半球偏侧化
4. A Deep Learning Method for Prediction of Benign Epilepsy with Centrotemporal Spikes [C] . Ming Yan, Ling Liu, Sihan Chen, International symposium on bioinformatics research and applications . 2018

机译：一种深度学习方法来预测中央颞尖良性癫痫
5. Examining the role of the M-type potassium current in epilepsy using mice that carry KCNQ2 and KCNQ3 gene alterations. [D] . Otto, James F. 2006

机译：使用携带KCNQ2和KCNQ3基因改变的小鼠，检查M型钾电流在癫痫中的作用。
6. Regional Homogeneity (ReHo) changes in new onset versus chronic benign epilepsy of childhood with centrotemporal spikes (BECTS): A resting state fMRI study [O] . Hongwu Zeng, Camille Garcia Ramos, Veena A. Nair, -1

机译：具有中央颞尖峰（BECTS）的儿童新发性与慢性良性癫痫的区域同质性（ReHo）变化：静态fMRI研究
7. Benign focal epilepsy of childhood with centrotemporal spikes (BECTS): clinical characteristics of seizures according to age at first seizure Epilepsia focal benigna da infância com ponta centrotemporal (EBIPCT): características clínicas de acordo com a idade na primeira crise epiléptica [O] . Carmen Silvia M.G. Miziara, Maria Luiza G. Manreza 2002

机译：中央颞尖峰的儿童良性局灶性癫痫（BECTS）：根据首次发作的年龄癫痫发作的临床特征：
8. Cohort Study of the Relationship Between c-erbB-2 and Cyclin D1 Overexpression, p53 Mutation and/or Protein Accumulation, and Risk of Progression from Benign Breast Disease to Breast Cancer; and Creation of a Bank of Benign Breast Tissue [R] . Kandel, R. A. , Rohan, T. 2002

机译：队列研究c-erbB-2和细胞周期蛋白D1过表达，p53突变和/或蛋白质积累，以及从良性乳腺疾病进展到乳腺癌的风险;和创建良性乳腺组织

KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

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