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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy

Progressive myoclonus epilepsy (PME) of Unverricht–Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder with the highest incidence of PME worldwide. Mutations in the gene encoding cystatin B (CSTB) are the primary genetic cause of EPM1. Here, we investigate the role of CSTB duri...

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Detalles Bibliográficos
Autores principales: Di Matteo, Francesco, Pipicelli, Fabrizia, Kyrousi, Christina, Tovecci, Isabella, Penna, Eduardo, Crispino, Marianna, Chambery, Angela, Russo, Rosita, Ayo‐Martin, Ane Cristina, Giordano, Martina, Hoffmann, Anke, Ciusani, Emilio, Canafoglia, Laura, Götz, Magdalena, Di Giaimo, Rossella, Cappello, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278547/
https://www.ncbi.nlm.nih.gov/pubmed/32378798
http://dx.doi.org/10.15252/emmm.201911419

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