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Rett syndrome
The syndrome was first described by Andreas Rett in 1966. Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide [1]
epilepsy, includying status epilepticus [2][3][4]
Disease classification WHO
F84.2 Rett syndrome
- ↑ Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
- ↑ http://www.apsu.org.au/assets/workshops/rett/Rett-syndrome-epilepsy.pdf
- ↑ Epilepsy and the natural history of Rett syndrome
- ↑ Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice