Original article Antiepileptic drugs in Rett Syndrome Maria Pintaudi a,* , Maria Grazia Calevo b , Aglaia Vignoli c , Maria Giuseppina Baglietto a,d , Yussef Hayek e , Maria Traverso a,d , Thea Giacomini a,d , Lucio Giordano f , Alessandra Renieri g,h , Silvia Russo i , MariaPaola Canevini c , Edvige Veneselli a,d a University of Genoa, DINOGMI, Italy b Epidemiology and Biostatistics Unit, Istituto Giannina Gaslini, Genoa, Italy c Department of Health Science, Epilepsy Centre, St. Paolo Hospital, University of Milan, Italy d Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy e Pediatric Neuropsychiatric Unit, University Hospital, Policlinico Le Scotte, Siena, Italy f Pediatric Neuropsychiatric Division, City Hospital of Brescia, Brescia, Italy g Medical Genetics, University of Siena, Siena, Italy h Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy i Department of Genetics, Istituto Auxologico Italiano, IRCCS, Milan, Italy article info Article history: Received 7 August 2014 Received in revised form 3 January 2015 Accepted 21 February 2015 Keywords: Rett Syndrome Epilepsy Treatment AEDs Efficacy Therapy abstract Purpose: We investigated drugs most often used to treat epilepsy in Rett Syndrome and their efficacy in a large cohort of Italian patients. Methods: This is a multi-centre retrospective study. Data of 165 Rett subjects were collected from the patients' files, and hospital charts. The efficacy of antiepileptic drugs (AEDs) was classified as follows: not effective; decrease in seizure frequency 50% for at least 6 months; seizure-free for at least 2 years. Phenotypic and genetic categorization of patients was performed and it was considered in AEDs efficacy evaluation. Results: There were 130 epileptic patients.Sodium valproate (VPA) was the most commonly administered AED (44.3%) at seizure onset, followed by Carbamazepine (CBZ) (25.4%) and Phenobarbital (PB) (13%). Monotherapy was the first treatment option in most patients. VPA and CBZ proved to be equally effective in Rett patients who presented seizures within the typical age range (4e5 years), while Lamotrigine (LTG) was effective for patients in whom epilepsy started later. Overall, the frequency of side effects was low and the most often observed ones were restlessness and somnolence. Conclusion: Our study suggests that LTG, VPA and CBZ can be used as drugs of first choice in Rett Syndrome. The association of four drugs should be avoided since it did not result in any significant clinical improvement. © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. * Corresponding author. University of Genoa, DINOGMI, Department of Child Neuropsychiatry, Istituto Giannina Gaslini, Largo Gaslini, 5, 16147 Genoa, Italy. Tel.: þ39 010 56362432, þ39 3292181228 (mobile); fax: þ39 010 381303. E-mail address: mariapintaudi@hotmail.com (M. Pintaudi). Official Journal of the European Paediatric Neurology Society european journal of paediatric neurology xxx (2015) 1 e7 http://dx.doi.org/10.1016/j.ejpn.2015.02.007 1090-3798/© 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. Please cite this article in press as: Pintaudi M, et al., Antiepileptic drugs in Rett Syndrome, European Journal of Paediatric Neurology (2015), http://dx.doi.org/10.1016/j.ejpn.2015.02.007