Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders, with the majority affecting postsynaptic apparatuses and much fewer in presynaptic proteins. Syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) is an essential component of the presynaptic neurotransmitte...

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Bibliographic Details
Main Authors: Wu Chen, Zhao-Lin Cai, Eugene S Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao-Tuan Chao, Joo Hyun Kim, Jessica E Messier, Huda Y Zoghbi, Jianrong Tang, John W Swann, Mingshan Xue
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2020-02-01
Series:eLife
Subjects:
neurobehaviors
intellectual disability
epilepsy
neuropsychiatric dysfunctions
cortical inhibitory interneurons
synaptic transmission
Online Access:https://elifesciences.org/articles/48705

Internet

https://elifesciences.org/articles/48705

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