title: Antiepileptic drugs in Rett Syndrome.
abstract: OBJECTIVE
  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 (4-5 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.
  
  
  CONCLUSIONS
  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.
authors: University of Genoa, DINOGMI, Italy. Electronic address: mariapintaudi@hotmail.com.
authors: Maria
authors: M
authors: Pintaudi
authors: Epidemiology and Biostatistics Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors: Maria Grazia
authors: MG
authors: Calevo
authors: Department of Health Science, Epilepsy Centre, St. Paolo Hospital, University of Milan, Italy.
authors: Aglaia
authors: A
authors: Vignoli
authors: University of Genoa, DINOGMI, Italy; Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy.
authors: Maria Giuseppina
authors: MG
authors: Baglietto
authors: Pediatric Neuropsychiatric Unit, University Hospital, Policlinico Le Scotte, Siena, Italy.
authors: Yussef
authors: Y
authors: Hayek
authors: University of Genoa, DINOGMI, Italy; Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy.
authors: Maria
authors: M
authors: Traverso
authors: University of Genoa, DINOGMI, Italy; Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy.
authors: Thea
authors: T
authors: Giacomini
authors: Pediatric Neuropsychiatric Division, City Hospital of Brescia, Brescia, Italy.
authors: Lucio
authors: L
authors: Giordano
authors: Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors: Alessandra
authors: A
authors: Renieri
authors: Department of Genetics, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
authors: Silvia
authors: S
authors: Russo
authors: Department of Health Science, Epilepsy Centre, St. Paolo Hospital, University of Milan, Italy.
authors: MariaPaola
authors: M
authors: Canevini
authors: University of Genoa, DINOGMI, Italy; Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy.
authors: Edvige
authors: E
authors: Veneselli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use*; D002220:Carbamazepine / Q000627:therapeutic use; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology; D005260:Female; D006801:Humans; D000077213:Lamotrigine; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000150:complications / Q000188:drug therapy*; D016896:Treatment Outcome; D014227:Triazines / Q000627:therapeutic use; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014227:Triazines; D002220:Carbamazepine; D014635:Valproic Acid; D000077213:Lamotrigine
keywords: AEDs; Efficacy; Epilepsy; Rett Syndrome; Therapy; Treatment