European journal of human genetics : EJHG · 2005
Early onset seizures and Rett-like features associated with mutations in CDKL5.
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Evans Julie C, Archer Hayley L, Colley James P, Ravn Kirstine, Nielsen Jytte Bieber, Kerr Alison, Williams Elizabeth, Christodoulou John, Gécz Jozef, Jardine Philip E, Wright Michael J, Pilz Daniela T, Lazarou Lazarus, Cooper David N, Sampson Julian R, Butler Rachel, Whatley Sharon D, Clarke Angus J
Аннотация
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 RTT and the other with early onset seizures and some features of RTT. In addition, the 33 patients with early seizures were screened for the most common mutations in the ARX gene but none were found. Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months.