Journal article

Early onset seizures and Rett-like features associated with mutations in CDKL5

JC Evans, HL Archer, JP Colley, K Ravn, JB Nielsen, A Kerr, E Williams, J Christodoulou, J Gecz, PE Jardine, MJ Wright, DT Pilz, L Lazarou, DN Cooper, JR Sampson, R Butler, SD Whatley, AJ Clarke

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2005

Abstract

Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the CDKL5 gene in 94 patients with RTT or a RTT-like phenotype who had tested negative for MECP2 mutations (13 classical RTT female subjects, 25 atypical RTT female subjects, 40 RTT-like female and 16 RTT-like male subjects; 33 of the patients had early onset seizures). Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RT..

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