单倍率不足
神经科学
谷氨酸的
加巴能
生物
谷氨酸受体
表型
遗传学
抑制性突触后电位
受体
基因
作者
Joo Hyun Kim,Wu Chen,Eugene S Chao,Armando Rivera,Heet Naresh Kaku,Kevin Jiang,Dong‐Won Lee,Hongmei Chen,Jaimie M. Vega,Teresa V. Chin,Kevin K. Jin,Kelly T. Nguyen,Sheldon S. Zou,Zain Moin,Shawn Nguyen,Mingshan Xue
标识
DOI:10.1523/jneurosci.1806-23.2024
摘要
An increasing number of pathogenic variants in presynaptic proteins involved in the synaptic vesicle cycle are being discovered in neurodevelopmental disorders. The clinical features of these synaptic vesicle cycle disorders are diverse, but the most prevalent phenotypes include intellectual disability, epilepsy, movement disorders, cerebral visual impairment, and psychiatric symptoms ( Verhage and Sørensen, 2020; Bonnycastle et al., 2021; John et al., 2021; Melland et al., 2021). Among this growing list of synaptic vesicle cycle disorders, the most frequent is
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