timi天美传孟若羽

团队介绍：

张月华课题组主要研究癫痫和运动障碍等神经系统发作性疾病的临床和分子遗传学研究，在儿童遗传性癫痫研究领域处于国内领先地位，在顿谤补惫别迟综合征和儿童交替性偏瘫致病基因嵌合体研究方面在国际上也有一定影响力。已在国内外学术刊物发表论文260余篇。获教育部科技进步奖、中华医学奖及宋庆龄儿科医学奖。

项目情况：

获国家自然基金、国家重点研发计划项目基金、北京市自然基金和北京大学“985”项目基金等资助。

招生信息（拟招生的研究方向）：

发育性癫痫性脑病基因型与表型相关性及发病机制研究

科研项目：

1.&苍产蝉辫;国家自然基金面上项目项目：骋础叠搁叠2基因突变导致癫痫的基因型和表型相关性及发病机制研究（编号：82071451）56万

2.&苍产蝉辫;国家重点研发计划项目（子课题）：基于国产迷走神经刺激器的临床应用解决方案研究（项目编号：2021驰贵颁2401205）20万

3. 国家重点研发计划项目（子课题）：儿童罕见病诊断关键技术与治疗靶点发现及转化医学研究（项目编号：2023YFC2706301） 30万

代表性研究成果：

1. Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Xiaoling Yang，Xiru Wu, Liping Wei, Yuehua Zhang. Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome. Human Mutation, 2015,36(9):861-872.

2. Liu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y*. The Clinical Spectrum of Female Epilepsy Patients with PCDH19 Mutations in a Chinese Population. Clin Genet. 2017;91:54-62

3. Xiaojuan Tian, Jintang Ye, Qi Zeng, Jing Zhang, Xiaoling Yang, Aijie Liu, Zhixian Yang, Xiaoyang Liu, Xiru Wu, Yuehua Zhang. The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Developmental Medicine & Child Neurology, 2018 DOI:10.1111/dmcn.13727

4. Liu AJ, Yang XX, Yang XX, et al. The mosacism and incomplete penetrance of PCDH19 mutations. Journal of Medical Genetics, 2019;56:81-88

5. Yang XL, Yang XX, Chen JY, et al. ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Clinical Genetics, 2019,96 (1):43-52

6. Ying Yang, Qi Zeng, Miaomiao Cheng, Xueyang Niu, Wenshu Xiangwei, Pan Gong, Wenhui Li, Jiehui Ma, Xiaoli Zhang, Xiaoling Yang, Zhixian Yang, Dan Sun, Shuizhen Zhou, Jianxiang Liao, Yuwu Jiang,Yuehua Zhang . GABRB3 related epilepsy: novel variants, clinical features and therapeutic implications. Journal of Neurology, 2021, https://doi.org/10.1007/s00415-021-10834-w

7. Jiaoyang Chen, Yi Chen, Ying Yang, Xueyang Niu, Jing Zhang, Qi Zeng, Aijie Liu, Xiaojing Xu, Xiaoxu Yang, Shupin Li, Xiaoling Yang, Yi Wang, Yuehua Zhang。Detecting genomic mosaicism in “De Novo” genetic epilepsy by Amplicon-based Deep Sequencing。J Human Genetics 2022，DOI：10.1038/s10038-022-01103-3

8. Yi Chen, Xiaoxu Yang, Jiaoyang Chen, Xiaoling Yang, Ying Yang, Aijie Liu, Xiaoli Zhang, Wenjuan Wu, Dan Sun, Zhixian Yang, Yuwu Jiang, Yuehua Zhang. PCDH19-related epilepsy in mosaic males: the phenotypic implication of genotype and variant allele frequency. Frontiers in Neurology 2022,  DOI:10.3389/fneur.2022.1041509

9. Wenwei Liu, Miaomiao Cheng, Ying Zhu, Ying Yang, Hui Chen, Xueyang Niu, Xiaojuan Tian, Yi Chen, Xiaoling Yang, Yuehua Zhang. DYNC1H1-related epilepsy:  Genotype-phenotype correlation.  Developmental Medicine & Child Neurology 2022，DOI：10.1111/dmcn.15414

10. Yi Chen，Aijie Liu，Xiaoli Zhang，Xiuwei Ma，Dan Sun，Xiaojuan Tian，Wenjuan Wu，Qi Zeng，Yuwu Jiang，Yuehua Zhang. Seizure course of PCDH19 clustering epilepsy in female children: A multicenter cohort study in China.  Develomental Medcine & Child Neurology 2023, DOI: 10.1111/dmcn.15803