Cargando…
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
Although genetic factors are considered a main etiology of epilepsy, the causes of genetic epilepsy in the majority of epilepsy patients remain unknown. Kinesin family member 1A (KIF1A), a neuron-specific motor protein that moves along with microtubules, is responsible for the transport of membranou...
Autores principales: | Guo, Yi, Chen, Yuanyuan, Yang, Min, Xu, Xin, Lin, Zijun, Ma, Junhong, Chen, Hongnian, Hu, Yida, Ma, Yuanlin, Wang, Xuefeng, Tian, Xin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056823/ https://www.ncbi.nlm.nih.gov/pubmed/32174959 http://dx.doi.org/10.3389/fgene.2020.00061 |
Ejemplares similares
-
Intestinal Klebsiella pneumoniae infection enhances susceptibility to epileptic seizure which can be reduced by microglia activation
por: Lin, Peijia, et al.
Publicado: (2021) -
SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities
por: Zhang, Yanke, et al.
Publicado: (2022) -
Beclin1 Deficiency Suppresses Epileptic Seizures
por: Yang, Min, et al.
Publicado: (2022) -
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus
por: Gowans, Lord J.J., et al.
Publicado: (2019) -
Editorial: Structural understanding of the functional consequences of missense mutation
por: Tian, Jian, et al.
Publicado: (2023)