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- Title
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
- Authors
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
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 deletions/duplications in causing early onset intractable epilepsy of unknown etiology in girls.
- Publication
Epilepsia, 2010, Vol 51, Issue 4, p647
- ISSN
1528-1167
- Publication type
Journal Article
- DOI
10.1111/j.1528-1167.2009.02308.x