Article
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Epilepsia - 1 Sept 2015
Lal Dennis, Pernhorst Katharina, Klein Karl Martin, Reif Philipp, Tozzi Rossana, Toliat Mohammad R, Winterer Georg, Neubauer Bernd, Nürnberg Peter, Rosenow Felix, Becker Felicitas, Lerche Holger, Kunz Wolfram S, Kurki Mitja I, Hoffmann Per, Becker Albert J, Perucca Emilio, Zara Federico, Sander Thomas, Weber Yvonne G
Abstract excerpt
Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism. The protein regulates alternative splicing of many neuronal transcripts involved...
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