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UNC13B variants associated with partial epilepsy with favourable outcome

The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain—predominantly in the cerebral cortex—and plays an essential role in synaptic vesicle priming and fusion, potentially affecting neuronal excitability. Howe...

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Detalles Bibliográficos
Autores principales: Wang, Jie, Qiao, Jing-Da, Liu, Xiao-Rong, Liu, De-Tian, Chen, Yan-Hui, Wu, Yi, Sun, Yan, Yu, Jing, Ren, Rong-Na, Mei, Zhen, Liu, Yu-Xi, Shi, Yi-Wu, Jiang, Mi, Lin, Si-Mei, He, Na, Li, Bin, Bian, Wen-Jun, Li, Bing-Mei, Yi, Yong-Hong, Su, Tao, Liu, Han-Kui, Gu, Wei-Yue, Liao, Wei-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634081/
https://www.ncbi.nlm.nih.gov/pubmed/33876820
http://dx.doi.org/10.1093/brain/awab164