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Rett syndrome: Difference between revisions
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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 | 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 | ||
<ref>[http://www.researchgate.net/profile/Franco_Laccone/publication/12502656_Rett_syndrome_analysis_of_MECP2_and_clinical_characterization_of_31_patients/links/0deec52b3581550f63000000.pdf Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients]</ref> | <ref>[http://www.researchgate.net/profile/Franco_Laccone/publication/12502656_Rett_syndrome_analysis_of_MECP2_and_clinical_characterization_of_31_patients/links/0deec52b3581550f63000000.pdf Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients]</ref> | ||
[[epilepsy]], | [[epilepsy]], including [[status epilepticus]] <ref>http://www.apsu.org.au/assets/workshops/rett/Rett-syndrome-epilepsy.pdf</ref><ref>[http://www.neurology.org/content/74/11/909.abstract Epilepsy and the natural history of Rett syndrome]</ref><ref>[http://www.seizure-journal.com/article/S1059-1311(11)00169-5/pdf Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice]</ref> | ||
[[nl:Syndroom van Rett]] | [[nl:Syndroom van Rett]] | ||
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<references/> | <references/> | ||
[[Category:Medicine]] | |||
Latest revision as of 18:08, 12 December 2016
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, including 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