0000000000206863
AUTHOR
Paolo Curatolo
Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience
This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated with rufinamide for a mean period of 12.3 months (range 3-21 months). Twenty patients were diagnosed as cryptogenic and 23 as symptomatic. Rufinamide was added to the baseline therapy at the starting dose of 10mg/kg body weight, evenly divided in two daily doses and then increased…
Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study
Summary Purpose To report on the first multicenter Italian experience with zonisamide as an add-on drug for refractory generalised or partial epilepsy in children, adolescents and young adults. Methods The patients were enrolled in a prospective, add-on, open-label treatment study from eight Italian centres for children and adolescent epilepsy care. Eighty-two young patients (45 males, 37 females), aged between 3 and 34 years (mean 13.1 years), all affected by partial (47) or generalised (35) refractory epilepsy, were enrolled in the study. ZNS was added to the baseline therapy at a starting dose of 1 mg/kg/day twice daily. This dose was increased by 2 mg/kg every 1–2 weeks over a period of…
Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
We describe a child with bilateral anophthalmia, limb anomalies, skin lesions, cerebral malformations, epilepsy, and mental retardation. This patient, according to eponymous classification, should fit into the Anophthalmia-Waardenburg syndrome, although he also presents cutaneous and cerebral manifestations never reported in this syndrome until now. These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome.
Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome
Background:  To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Methods:  Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months). Results:  Fifteen of 38 patients (39.5%) had a ≥50% seizure reduction in co…