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Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|August 17, 2018
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized TherapyRobertino Dilena, Jacopo C DiFrancesco, Maria Virginia Soldovieri, et al.Frontiers in Molecular Neuroscience|August 22, 2018
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal ExcitabilityGiulia Campostrini, Jacopo C DiFrancesco, Barbara Castellotti, et al.Epilepsy Research|April 29, 2008
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteinsErica Diani, Carlo Di Bonaventura, Oriano Mecarelli, et al.Journal of Medical Genetics|October 29, 2009
Mutations of FUS gene in sporadic amyotrophic lateral sclerosisLucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 10, 2012
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementiaCinzia Gellera, Cinzia Tiloca, Roberto Del Bo, et al.Epilepsy Research|April 16, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literatureJacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, et al.Nature Genetics|March 9, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, et al.Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.Neurobiology of Aging|July 7, 2012
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effectAntonia Ratti, Lucia Corrado, Barbara Castellotti, et al.Epilepsia|July 20, 2007
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsyFerdinanda Annesi, Antonio Gambardella, Roberto Michelucci, et al.Pageof 8