Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice

Angelman syndrome (AS) is a neurodevelopmental disorder in which epilepsy is common (~90%) and often refractory to antiepileptics. AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3A (UBE3A), but it is unclear how this genetic insult confers vulnerability to sei...

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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Gu, Bin, Carstens, Kelly E., Judson, Matthew C., Dalton, Katherine A., Rougié, Marie, Clark, Ellen P., Dudek, Serena M., Philpot, Benjamin D.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2018
Matèries:
Concise Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307939/
https://ncbi.nlm.nih.gov/pubmed/30352049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI120816
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