Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological e...

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Detalhes bibliográficos
Main Authors: Parker, Whitney E., Orlova, Ksenia A., Parker, William H., Birnbaum, Jacqueline F., Krymskaya, Vera P., Goncharov, Dmitry A., Baybis, Marianna, Helfferich, Jelte, Okochi, Kei, Strauss, Kevin A., Crino, Peter B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3720125/
https://ncbi.nlm.nih.gov/pubmed/23616120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3005271
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