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.
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy / Mei D; Marini C; Novara F; Dalla Bernardina B; Granata T; Fontana E; Parrini E; Ferrari AR; Murgia A; Zuffardi O; Guerrini R.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - Apr. 51 (4):(2010), pp. 647-654. [10.1111/j.1528-1167.2009.02308.x]
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Marini C;GUERRINI, RENZO
2010
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.
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