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Journal of Child Neurology|April 13, 2011
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of lifeStefano Sartori, Roberta Polli, Elisa Bettella, et al.
Epilepsia Open|December 24, 2024
CLN6-related continuum phenotype caused by aberrant splicingFederica Invernizzi, Barbara Castellotti, Chiara Reale, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Epilepsy & Behavior : E&B|October 18, 2025
Developmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, ItalyGiuseppe Didato, Francesca Ragona, Alice Pompili, et al.
BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 26, 2023
WISC-IV intellectual profiles in Italian children with self-limited epilepsy with centrotemporal spikesMartina Paola Zanaboni, Ludovica Pasca, Stefania Maria Bova, et al.
Neuropediatrics|October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra SyndromeThea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
American Journal of Medical Genetics. Part A|October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsyBeatrice De Maria, Simona Balestrini, Davide Mei, et al.
Epilepsy Research|September 15, 2014
Epilepsy in Menkes disease: an electroclinical long-term study of 28 patientsAlberto Verrotti, Raffaella Cusmai, Francesca Darra, et al.
Epilepsia|May 15, 2012
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literatureAglaia Vignoli, Renato Borgatti, Angela Peron, et al.
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