Article
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
PloS one - 1 Jan 2013
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
Abstract excerpt
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 transcrip...
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