Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

Cheadle J.P., Gill H., Fleming N., Maynard J., Kerr A., Leonard H. et al.:Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet., 2000, 9: 1119-1129.10.1093/hmg/9.7.1119Search in Google Scholar

Curatolo P., Bombardieri R., Jozwiak S.:Tuberous sclerosis. Lancet, 2008, 372: 657-668.10.1016/S0140-6736(08)61279-9Search in Google Scholar

Davis P.E., Peters J.M., Krueger D.A., Sahin M.:Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics, 2015, 12: 572–583. doi: 10.1007/s13311-015-0359-5.10.1007/s13311-015-0359-5448994825986747Search in Google Scholar

Davydov E.V., Goode D.L., Sirota M., Cooper G.M., Sidow A., Batzoglou S.:Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol., 2010, 6: e1001025.10.1371/journal.pcbi.1001025299632321152010Search in Google Scholar

Della Sala G., Pizzorusso T.:Synaptic plasticity and signaling in Rett syndrome. Dev. Neurobiol., 2014, 74: 178–196.10.1002/dneu.2211423908158Search in Google Scholar

Dolce A., Ben-Zeev B., Naidu S., Kossoff E.H.:Rett syndrome and epilepsy: an update for child neurologists. Pediatr. Neurol., 2013, 48: 337–345.10.1016/j.pediatrneurol.2012.11.00123583050Search in Google Scholar

Gadalla K.K., Bailey M.E., Cobb S.R.:MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. Biochem. J., 2011, 439: 1–14.10.1042/BJ2011064821916843Search in Google Scholar

Khwaja O.S., Sahin M.:Translational research: Rett syndrome and Tuberous Sclerosis Complex. Curr. Opin. Pediatr., 2011, 23: 633–639.10.1097/MOP.0b013e32834c9251321261121970827Search in Google Scholar

Kothare S.V., Singh K., Chalifoux J.R., Staley B.A., Weiner H.L., Menzer K.:Severity of manifestations in tuberous sclero-sis complex in relation to genotype. Epilepsia, 2014, 55: 10251029. doi: 10.1111/epi.12680.10.1111/epi.1268024917535Search in Google Scholar

Krueger D.A., Northrup H. on behalf of the International Tuberous Sclerosis Complex Consensus Group:Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis. Pediatr. Neurol., 2013, 49: 255–265.Search in Google Scholar

Neul J.L.:The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin. Neurosci., 2012, 14: 253–262.10.31887/DCNS.2012.14.3/jneulSearch in Google Scholar

Philippart M.:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. Am. J. Med. Genet., 1993, 48: 229–230.10.1002/ajmg.13204804117510933Search in Google Scholar

Ricciardi S., Boggio E.M., Grosso S., Lonetti G., Forlani G., Stefanelli G. et al.:Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum. Mol. Gen., 2011, 20: 1182–1196.10.1093/hmg/ddq56321212100Search in Google Scholar

Roach E.S., Sparagana S.P.:Diagnosis of tuberous sclerosis complex. J. Child. Neurol., 2004, 19: 643–649.10.1177/0883073804019009030115563009Search in Google Scholar

Schwarz J.M., Cooper D.N., Schuelke M., Seelow D.:MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods., 2014, 11: 361–362.10.1038/nmeth.289024681721Search in Google Scholar

Sheen V., Valencia I.M., Torres A.R.:Atypical features in MECP2 P152R-associated Rett syndrome. Pediatr. Neurol., 2013, 49: 124–126.10.1016/j.pediatrneurol.2012.12.03723859859Search in Google Scholar

Troca-Marín J.A., Casañas J.J., Benito I., Montesinos M.L.:The Akt-mTOR pathway in Down’s syndrome: the potential use of rapamycin/rapalogs for treating cognitive deficits. CNS Neurol. Disord. Drug Targets, 2014, 13: 34–40.10.2174/1871527311312666018424152334Search in Google Scholar