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Journal of Neurology|October 19, 2014
Long-term outcome of epilepsy in patients with Prader-Willi syndromeAlberto Verrotti, Raffaella Cusmai, Daniela Laino, et al.Epilepsy Research|April 16, 2003
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancyFrancesca Madia, Elena Gennaro, Massimiliano Cecconi, et al.European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.Plos One|October 30, 2014
PDCD10 gene mutations in multiple cerebral cavernous malformationsMaria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, et al.Epilepsy Research|May 7, 2011
A clinical and genetic study of 33 new cases with early-onset absence epilepsyLucio Giordano, Aglaia Vignoli, Patrizia Accorsi, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 5, 2015
Refractory absence seizures: An Italian multicenter retrospective studyEmilio Franzoni, Sara Matricardi, Veronica Di Pisa, et al.American Journal of Human Genetics|November 19, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansRyan P Liegel, Mark T Handley, Adam Ronchetti, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|August 28, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndromeSilvia Masnada, Enrico Alfei, Manuela Formica, et al.Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, et al.Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.Pageof 12