Article
Cognitive and Motor Dysfunction in STXBP1 R406H Mice.
Journal of molecular neuroscience : MN - 28 Feb 2026
Liu Hua, Duan Ya-Ze, Li Shang, Hu Yi, Mao Xiao, Cheng Yong
Abstract excerpt
The STXBP1 protein critically regulates synaptic vesicle fusion and neurotransmitter release, with its mutations implicated in neurodevelopmental disorders. STXBP1 R406H can lead to the occurrence of early-onset epileptic encephalopathy (EOEE). To better elucidate the molecular mechanisms underlying pathogenesis,we generated an STXBP1 R406H mutation mouse model that recapitulated key cognitive-social deficits...
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