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

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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

Double dose against rare diseases

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Reference: Abstract: Recently, two teams from CNRS have reported encouraging results in the fight against two rare diseases: “children of the moon” and Rett syndrome. PROJECT DETAILS  beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: National Center for Scientific Research Financing: NATIONAL FUNDINGS – 0 € hyperlink

Creating conditions : the making and re-making of a genetic syndrome

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Reference: RES-145-28-1003 Abstract: Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of … Read more

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