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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Pubblicato in:J Clin Invest
Autori principali: Gu, Bin, Carstens, Kelly E., Judson, Matthew C., Dalton, Katherine A., Rougié, Marie, Clark, Ellen P., Dudek, Serena M., Philpot, Benjamin D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2018
Soggetti:
Concise Communication
Accesso online: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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