Search

Your search keyword '"X N, Ji"' showing total 4 results
Start Over Author "X N, Ji"
4 results on '"X N, Ji"'

1. [Research progress on DEPDC5 gene related epilepsy]

Author

M X, Shen, X N, Ji, A J, Liu, and Q, Chen

Subjects
Epilepsy, Mutation, GTPase-Activating Proteins, Humans, Epilepsies, Partial
Abstract

DEPDC5基因相关癫痫是哺乳动物雷帕霉素靶蛋白（mTOR）通路相关病。该病呈常染色体显性遗传，临床表型异质性大，轻者表现为无症状携带者，重者可发生癫痫性猝死，有多种癫痫发作类型，伴或不伴皮质发育畸形，抗癫痫药物治疗反应欠佳。本文对DEPDC5基因相关癫痫的临床特征、发病机制及治疗进展进行综述。.

Published
2022

2. [Clinical and genetic characteristics of children with STXBP1 encephalopathy]

Author

J J, Cao, X N, Ji, Y Y, Mao, P P, Zhang, W T, Liu, H Z, Zhang, N, Ding, and Q, Chen

Subjects
Male, Brain Diseases, Epilepsy, Developmental Disabilities, Infant, Electroencephalography, Munc18 Proteins, Child, Preschool, Mutation, Humans, Point Mutation, Female, Spasms, Infantile, Retrospective Studies
Published
2020

4. [Study of

Author

Z J, Gao, Q, Jiang, X L, Chen, Q, Chen, X N, Ji, Y Y, Mao, S, Feng, J J, Dong, and K M, Xu

Subjects
Male, Developmental Disabilities, Intellectual Disability, Mutation, Facies, Humans, Point Mutation, Exome, Female
Published
2018

Catalog

Books, media, physical & digital resources
See catalog results