RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate alternative splicing of many neuronal transcripts...

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Detalles Bibliográficos
Autores principales: Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765197/
https://www.ncbi.nlm.nih.gov/pubmed/24039908
http://dx.doi.org/10.1371/journal.pone.0073323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765197/
https://www.ncbi.nlm.nih.gov/pubmed/24039908
http://dx.doi.org/10.1371/journal.pone.0073323

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