Article
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Epilepsia - 1 Feb 2013
Lal Dennis, Trucks Holger, Møller Rikke S, Hjalgrim Helle, Koeleman Bobby P C, de Kovel Carolien G F, Visscher Frank, Weber Yvonne G, Lerche Holger, Becker Felicitas, Schankin Christoph J, Neubauer Bernd A, Surges Rainer, Kunz Wolfram S, Zimprich Fritz, Franke Andre, Illig Thomas, Ried Janina S, Leu Costin, Nürnberg Peter, Sander Thomas
Abstract excerpt
PURPOSE: Structural variations disrupting the gene encoding the neuron-specific splicing regulator RBFOX1 have been reported in three patients exhibiting epilepsy in comorbidity with other neuropsychiatric disorders. Consistently, the Rbfox1 knockout mouse model showed an increased susceptibility of seizures. The present candidate gene study tested whether exon-disrupting deletions of RBFOX1 increase the risk of...
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