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Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

GABRB3 is highly expressed early in the developing brain, and its encoded β3 subunit is critical for GABA(A) receptor assembly and trafficking as well as stem cell differentiation in embryonic brain. To date, over 400 mutations or variants have been identified in GABRB3. Mutations in GABRB3 have bee...

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Podrobná bibliografie
Vydáno v:Brain
Hlavní autoři: Shi, Yi-Wu, Zhang, Qi, Cai, Kefu, Poliquin, Sarah, Shen, Wangzhen, Winters, Nathan, Yi, Yong-Hong, Wang, Jie, Hu, Ningning, Macdonald, Robert L, Liao, Wei-Ping, Kang, Jing-Qiong
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6776116/
https://ncbi.nlm.nih.gov/pubmed/31435640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz250
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