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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Main Authors: 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: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3765197/
https://ncbi.nlm.nih.gov/pubmed/24039908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073323
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