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