United Kingdom

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

Environmental enrichment and cognitive function across the lifespan

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Reference: BB/L00139X/1 Abstract: The human brain, like other organs, is affected by ageing. This can lead to reduced concentration, forgetfulness, and confusion when confronted with novel or unexpected situations. In more severe cases this puts the person at risk of harm and jeopardises independent living, placing heavy burdens on families and society. There is therefore … Read more

Genetic counselling for Rett syndrome

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Reference: RES-145-28-1003 Abstract: PROJECT DETAILS  beginning: n.a end: n.a Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome

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Reference: RES-145-28-1003 Abstract: INTRODUCTION: MECP2 mutations are identifiable in ~80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. METHODS: We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 … Read more

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