依托科技部癫痫分子分型重点研发计划基于组学特征谱的癫痫分子分型研究(2016YFC0904400)和国际人类表型组计划示范项目癫痫全表型研究项目(2017SHZDZX01)开展了难治性癫痫手术治疗患者脑组织基因组学、转录组学、蛋白质组学和代谢组学研究,探索难治性癫痫致病分子机制,筛选影响癫痫发生发展和与临床表型关联的关键分子标志物。建立KCNQ2、SCN8A相关癫痫等发育性癫痫性脑病队列,开展基因型-表型关联研究。对癫痫遗传检测阴性数据进行基因挖掘,发现新的致病基因和致病机制。相关成果发表于《Seizure》、《Front Psychiatry》、《Epilepsy & Behavior》等国际期刊杂志。
近期发表文章如下:
1. B.T. Darras, R. Masson, M. Mazurkiewicz‑Bełdzińska, K. Rose, H. Xiong, E. Zanoteli, G. Baranello, C. Bruno, D. Vlodavets, Y. Wang, M. El‑Khairi, L. Servais, for the FIREFISH Working Group*.Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. N Engl J Med. 2021;385(5):427-435. IF: 91.245
2. Li S, Ma Y, Wang T, Jin H, Du X, Wang Y*. Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China. Front Psychiatry. 2022 Apr 28;13:886028. IF: 4.157
3. Hu C, Luo T, Wang Y. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders. Seizure. 2022;95:38-49. IF: 3.184
4. Wang T, Wang J, Lu G, et al. Inpatient medical cost of status epilepticus in children: A national-wide, multicenter study from China. Epilepsy Behav. 2021;123:108248. IF: 2.937
5. Wang M, Zhang Y, Xue P, et al. Optimized SEEG-guided radiofrequency thermocoagulation in the treatment of pediatric hypothalamic hamartomas. Seizure. 2021;86:102-108. IF=3.184
6. Luo T, Wang X, Wang J, Zhao R, Li H, Zhou Y, Wang Y. Optimization and high-density array of stereoelectroencephalography-guided radiofrequency thermocoagulation for the treatment of pediatric tuberous sclerosis complex with epilepsy. CNS Neurosci Ther. 2022 May;28(5):724-731. IF: 5.243
7. Luo T, Wang J, Zhou Y, et al. EMD-WOG-2DCNN based EEG signal processing for Rolandic seizure classification. Comput Methods Biomech Biomed Engin. 2022;1-11. IF: 1.763
8. Luo T, Wang Y, Lu G, Zhou Y, Wang Y. Vagus nerve stimulation for super-refractory status epilepticus in febrile infection-related epilepsy syndrome: a pediatric case report and literature review. Childs Nerv Syst. 2021 Nov 11. IF: 1.475