Article
The three stages of epilepsy in patients with CDKL5 mutations.
Epilepsia - 1 Jun 2008
Bahi-Buisson Nadia, Kaminska Anna, Boddaert Nathalie, Rio Marlène, Afenjar Alexandra, Gérard Marion, Giuliano Fabienne, Motte Jacques, Héron Delphine, Morel Marie Ange N'guyen, Plouin Perrine, Richelme Christian, des Portes Vincent, Dulac Olivier, Philippe Christophe, Chiron Catherine, Nabbout Rima, Bienvenu Thierry
Abstract excerpt
UNLABELLED: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy. So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established. PURPOSE: To characterize the epilepsy associated with CDKL5 mutations and to look for a relationship between the genotype and the course of...
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