个人简介：

神经病学博士，主任医师，天津市儿童医院神经内科党支部书记、科主任。主要研究领域为神经遗传代谢病、儿童癫痫、神经免疫疾病等。2017年在美国西雅图儿童医院神经内科、华盛顿大学医学中心访问学习。与天津医科大学总医院神经内科共同进行神经免疫疾病的科研工作，与南开大学合作研究“进行性肌营养不良的发病机制及基因检测”并发表论著。研究“有机酸尿症发病机制”、“中枢神经系统疾病免疫机制”等，并发表多篇论著。主持及参与市及卫健委课题多项。发表论文数十篇、担任副主编及参编著作4部。

研究方向：

神经遗传代谢病、儿童癫痫、神经免疫疾病

代表性学术成果：（论文）

（1）Xinquan Liu, Xingmiao Liu, Xiaoli Yu, Xiaojun Liu, Kang Du, Yan Wang, Dong Li.An attention-based deep learning method for the detection of electrical status epilepticus during sleep from electroencephalogram waveform analysis in children.Biomedical Signal Processing and Control.Volume 91,2024.105926

（2）Liu X, Lei M, Xue Y, Li H, Yin J, Li D, Shu J, Cai C. Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants. Biochem Genet. 2023 Sep 23

（3) Dong Y, Li W, Meng J, Wang P, Sun M, Zhou F, Li D, Shu J, Cai C. Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders. Am J Med Genet A. 2023 Nov;191(11):2775-2782

（4）Xiufang Zhi , Linjie Pu , Bo Wu , Yaqiong Cui , Changshun Yu , Yan Dong, Dong Li* , Chunquan Cai*. Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability [J]. Clin Chim Acta, 2022, 532: 137-44.

（5）Xiufang Zhi , Qi Ai , Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu，Xiaoli Yu*, Dong Li * and Chunquan Cai*. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined with RNA Sequencing in a Chinese Patient with Menkes Disease [J]. Front Genet, 2022, 13: 852764.

（6）Liu X, Liu X, Fan W, Zhang Z, Zhang P, Liu X, Lei M, Li Q, Yu X, Li D*. Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review. Front Neurol. 2022 Jul 28;13:928334.

（7）Meifang Lei, Yaqiong Cui, Zhaoying Dong, Xiufang Zhi, Jianbo Shu, Chunquan Cai* and Dong Li*. Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis with and Without Antibodies to Myelin Oligodendrocyte Glycoprotein [J]. Front Pediatr, 2022, 10: 859932.

（8）Meifang Lei, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Qianqian Zhang, Chunquan Cai*, Dong Li* and Yuqin Zhang*. Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant [J]. Front Pediatr, 2022, 10: 880242.

（9）Jianbo Shu, Xiufang Zhi , Jing Chen, Meifang Lei , Jie Zheng, Wenchao Sheng, Chunhua Zhang, Dong Li * and Chunquan Cai*. Case Report: A Case of β-Ureidopropionase Deficiency Complicated with MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant [J]. Front Pediatr, 2022, 10: 838341.

（10）Dandan Yan, Shaopei Chen, Fengying Cai , Jianbo Shu, Xiufang Zhi ,Jie Zheng, Chunhua Zhang, Dong Li * and Chunquan Cai*. Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family [J]. Front Pediatr, 2022, 9: 816265.

（11） Xiangyu Liu，Jing Meng, Jinhui Ma, Jianbo Shu, Chunyu Gu, Xiaofang Chen, Dong Li*, Chunquan Cai*. The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review [J] . Mol Biol Rep. 2022, 49:10469-10477.

（12）Chunyu Gu, Xiaowei Lu, Jinhui Ma, Linjie Pu, Xiufang Zhi, Jianbo Shu, Dong Li* and Chunquan Cai*. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report. [J] .BMC Pediatr, 2022, 22: 459.

（13）Detong Guo, Xuemei Li, Nan Liu, Xiaoli Yu, Jianbo Shu, Wenchao Sheng, Dong Li* and Chunquan Cai*. Beware of missed diagnosis in patients with multiple genetic diseases: a case report. [J] .BMC Pediatr, 2022, 22: 436.

（14）Wang C, Li D, Cai F, Zhang X, Xu X, Liu X, Zhang C, Wang D, Liu X, Lin S, Zhang Y, Shu J. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review[J] . Eur J Med Genet. 2019 Oct;62(10):103713.

科研项目：

已完成项目：（1）主持天津市儿童医院项目（Y2020012）：“儿童急性播散性脑脊髓炎免疫表型与临床研究”。（2）参与天津市自然科学基金/天津大学医工结合基金项目 （青年）（21JCQNJC00370）：“深度表型分析构建遗传性癫痫的人工智能早期诊断平台”。

在研项目：（1）主持天津市卫生健康科技项目（TJWJ2021MS022）：“儿童抗MOG抗体相关疾病风险预测模型的构建及临床应用”，2021.12-2024.12，10万元。（2）参与天津市应用基础研究 (青年)(22JCQNJC01020):  “MAPK/ERK信号通路激活对合并型甲基丙二酸血症中神经发育的影响”，2022.9-2024.9，6万。（3)参与天津市卫生健康科技青年项目（TJWJ2024QN079）：“基于GFAP及NFL构建儿童中枢神经损伤预测模型”，2024.7-2027.6，5万元

社会学术兼职：

中华医学会神经病学分会神经遗传学组委员

中华医学会儿科学分会发育行为学组委员

中国抗癫痫协会理事

天津市抗癫痫协会常务理事兼副秘书长

天津市医学会罕见病分会常务委员

天津市医学会儿科学分会委员

天津市医学会儿科学分会神经学组副组长

天津市医学会神经病学分会神经免疫学组副组长