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Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome

Ohtahara syndrome, also known as type 4 of Early Infantile Epileptic Encephalopathy with suppression bursts (EIEE-4) is currently an untreatable disorder that presents with seizures and impaired cognition. EIEE-4 patients have mutations most frequently in the STXBP1 gene encoding a Sec protein, munc...

詳細記述

保存先:
書誌詳細
出版年:Mol Cell Neurosci
主要な著者: Orock, Albert, Logan, Sreemathi, Deak, Ferenc
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5893365/
https://ncbi.nlm.nih.gov/pubmed/29217410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mcn.2017.12.002
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