癫痫、脑电图及遗传学

杨志仙，北京大学人民医院儿科主任，癫痫中心副主任，教授，博士生导师。荷兰国家癫痫研究所及乌特勒支大学访问学者。先后在北京大学第一医院和北京大学人民医院从事儿科神经、癫痫及脑电图临床及科研工作。荣获2023年第六届国之名医优秀风范奖；北京大学优秀博士生指导教师2次；主持并完成多项国家级及部委级基金。第一作者或通讯作者发表论文上百篇，其中SCI 60余篇。

1.北京市自然科学基金面上项目，利用脑类器官构建CHD2突变的眼睑肌阵挛模型及基因治疗研究，在研、主持。

2.国家自然科学基金面上项目，钾通道KCNA2基因P405L突变在睡眠中癫痫性电持续状态（ESES）的作用及机制研究，在研、主持。

1.Zhou Z, Jiao X, Gong P, Niu Y, Xu Z, Zhang G, Zhang Y, Qin J, Yang Z*. Clinical features and underlying etiology of children with Lennox-Gastaut syndrome. J Neurol. 2024;271(8):5392-5401. IF 4.8

2.Zhou Z, Gong P, Niu Y, Jiao X, Xu Z, Qin J, Yang Z*, A Generalized Seizure Type: Myoclonic-to-Tonic Seizure, Clinical Neurophysiology. 2024;164:24-29. IF 4.7

3.Xu Z, Sadleir L, Goel H, Jiao X, Niu Y, Zhou Z, de Valles-Ibáñez G, Poke G, Hildebrand M, Lieffering N, Qin J, Yang Z*. Genotype and phenotype correlation of PHACTR1-related neurological disorders. J Med Genet. 2024;61(6):536-542. IF: 4.0

4.Niu Y, Gong P, Jiao X, Xu Z, Zhou Z，Zhang Y, Qin J，Yang Z*. Electroclinical features and long-term photosensitivity outcome in PPR patients with epilepsy. Pediatr Neurol. 2023;147:88-94. IF 3.8

5.Jiao X, Gong P, Niu Y, Xu Z, Zhang Y, Yang Z*. Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. Hum Mol Genet. 2023;32(11):1765-1771. IF:5.121

6.Jiao X, Gong P, Niu Y, Xu Z, Wu Y, Zhang Y, Yang Z*. The Clinical Features and Long-Term Follow-Up of Vitamin B6-Responsive Infantile Spasms in a Chinese Cohort. Frontiers in neurology,2022,13;895978. IF:4.086

7.Niu Y, Gong P, Jiao X, Yang Z*. Jeavons syndrome featured with visual sensitivity existing as occipital cortex originating focal-to-generalized continuum epilepsy. Eur J Paediatr Neurol. 2022; 40:51-56. IF：3.692

8.Niu Y, Gong P, Jiao X, Xu Z, Zhang Y, Yang Z*. Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity. Front Neurol. 2022,13:907228. IF:4.003

9.Jiao X, Gong P, Niu Y, Zhang Y, Yang Z*. A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5’-Phosphate Oxidase, and PLPBP Deficiency. Front Genet. 2022,13;804461. IF:4.599

10.Niu Y, Qian Q, Li J, Gong P, Jiao X, Mao X, Xiao B, Long L*, Yang Z*. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype. Clin Genet. 2022;101(4):459-465. IF: 4.438

11.Xu Z, Jiao X, Gong P, Niu Y, Yang Z*. Startle-Induced Epileptic Spasms: A Clinical and Video-EEG Study. Front Neurol. 2022, 13:878504. IF:4.003

12.Gong P, Liu J, Jiao X, Niu Y, Wang J, Wang X, Yang Z*. Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability. Hum Mutat. 2022, 43(3):299-304. IF: 4.878

13.Jiao X, Xue Y, Yang S, Gong P, Niu Y, Wang Q, Yang H, Xiong H, Zhang Y, Yang Z*. Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase. Dev Med Child Neurol. 2022,64(1):125-134. IF: 5.449

14.Gong P, Jiao X, Yu D, Yang Z*. Causative De Novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy. Front Genet. 2021, 12:649556. IF:4.599

15.Pan Gong, Jiao Xue, Xianru Jiao, Yuehua zhang, Zhixian Yang*. Genetic etiologies in developmental and/or epileptic encephalopathy with electrical status epilepticus during sleep: cohort study. Front Genet. 2021, 12:607965. IF: 4.599

16.Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Yang Zhixian*. Analysis of the phenotypic variability as well as impact of early diagnosis and treatment in six affected families with ALDH7A1 deficiency. Front Genet. 2021,12:644447. IF: 4.599