Article
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Epilepsia - 1 Apr 2010
Mei Davide, Marini Carla, Novara Francesca, Bernardina Bernardo D, Granata Tiziana, Fontana Elena, Parrini Elena, Ferrari Anna R, Murgia Alessandra, Zuffardi Orsetta, Guerrini Renzo
Abstract excerpt
PURPOSE: Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype. Very limited information is available on the frequency and phenotypic spectrum associated with CDKL5 deletions/duplications. We investigated the role of CDKL5...
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