Reference:
RES-145-28-1003
Abstract:
Mutations in theﾠCDKL5ﾠgene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients withﾠCDKL5ﾠmutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened theﾠCDKL5ﾠgene in 94 patients with RTT or a RTT-like phenotype who had tested negative forﾠMECP2ﾠmutations (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 pathogenicCDKL5ﾠmutations 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 theﾠARXﾠgene but none were found. Combining our three new cases with the previously published cases, 13/14 patients withﾠCDKL5ﾠmutations presented with seizures before the age of 3 months.
PROJECT DETAILS
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Country of research: United Kingdom
Counry of funding source: United Kingdom
Funding organization: Economic and Social Research Council Shaping Society
Financing: NATIONAL FUNDINGS – 0 €