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Neuropediatrics|October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra SyndromeThea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|September 3, 2025
Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiencyGiorgio Medici, Marianna Tassinari, Manuela Loi, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Neurology|January 4, 2014
Progressive myoclonic epilepsies: definitive and still undetermined causesSilvana Franceschetti, Roberto Michelucci, Laura Canafoglia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2026
In search of "what really matters": Insights from a web-based survey on Patient-Centered Outcomes in GLUT1DSCostanza Varesio, Ludovica Pasca, Martina Paola Zanaboni, et al.
Journal of Neurology|March 3, 2005
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardationGiovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, et al.
Veterinary Journal (London, England : 1997)|February 15, 2023
Translational veterinary epilepsy: A win-win situation for human and veterinary neurologyMarios Charalambous, Andrea Fischer, Heidrun Potschka, et al.
European Journal of Neurology|September 14, 2021
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 geneSara Matricardi, Paolo Bonanni, Giulia Iapadre, et al.
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