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

Developmental Control of Gene Expression

Reference: 864.03.002 Abstract: One of the most profound and intriguing questions in biology concerns the relationship between genetic diversity and the morphology and biology of different species. The key to understanding this relationship will be found in uncovering the contribution of gene family members to the development of organisms. In recent years it has become … Read more

Analysis of transcriptional repression and DNA binding of MeCP2 and its significance for Rett Syndrome (B 2)

Reference: B2 – Subproject to SFB 545: Molecular mechanisms of genetic diseases Abstract: PROJECT DETAILS  beginning: 1997. end: 2003. Country of research: Germany Counry of funding source: Germany Funding organization: GermanᅠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

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