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Neurogenetics|March 30, 2006
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the MediterraneanNatalia Cannelli, Denise Cassandrini, Enrico Bertini, et al.Pharmaceuticals (Basel, Switzerland)|July 2, 2021
UHPLC-MS/MS Analysis of Cannabidiol and Its Metabolites in Serum of Patients with Resistant Epilepsy Treated with CBD FormulationsSara Malaca, Massimo Gottardi, Federica Pigliasco, et al.American Journal of Medical Genetics. Part A|October 7, 2015
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical regionFrancesco Nicita, Giacomo Garone, Alberto Spalice, et al.Brain & Development|July 6, 2010
Ictal EEG patterns in epilepsy with centro-temporal spikesGiuseppe Capovilla, Francesca Beccaria, Amedeo Bianchi, et al.Epilepsia|July 7, 2016
Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta-analysis of risk factorsEdoardo Ferlazzo, Sara Gasparini, Ettore Beghi, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndromeValeria Capra, Roberta Biancheri, Giovanni Morana, et al.Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.Journal of Medical Genetics|April 3, 2021
Adult phenotype of KCNQ2 encephalopathyStephanie Boets, Katrine M Johannesen, Anne Destree, et al.Seizure|August 18, 2022
An Italian consensus on the management of Lennox-Gastaut syndromeAntonella Riva, Antonietta Coppola, Carlo Di Bonaventura, et al.American Journal of Medical Genetics. Part A|July 20, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansionCristina Chelleri, Noemi Brolatti, Patrizia De Marco, et al.Pageof 77