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Epilepsia Open|December 24, 2024
CLN6-related continuum phenotype caused by aberrant splicingFederica Invernizzi, Barbara Castellotti, Chiara Reale, et al.Journal of the Neurological Sciences|February 5, 2010
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2Elide Mantuano, Silvia Romano, Liana Veneziano, et al.Brain : a Journal of Neurology|May 17, 2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48Viviana Pensato, Barbara Castellotti, Cinzia Gellera, et al.Neuropathology and Applied Neurobiology|February 4, 2026
Lipofuscin Accumulation in Dysmorphic Neurons in FCDIIa Focal Epilepsy: A Case Report and Literature ReviewRita Garbelli, Dalia De Santis, Cinzia Cagnoli, et al.Neurobiology of Aging|June 16, 2009
No association of DPP6 with amyotrophic lateral sclerosis in an Italian populationIsabella Fogh, Sandra D'Alfonso, Cinzia Gellera, et al.Pharmacological Research|September 17, 2020
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathyMaria Virginia Soldovieri, Elena Freri, Paolo Ambrosino, et al.Neurobiology of Disease|June 25, 2018
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitabilityMattia Bonzanni, Jacopo C DiFrancesco, Raffaella Milanesi, et al.Epilepsia|October 16, 2020
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 geneSara Matricardi, Paola De Liso, Elena Freri, et al.Neurobiology of Aging|July 6, 2013
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosisDaniela Calini, Lucia Corrado, Roberto Del Bo, et al.Epilepsia|September 25, 2023
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic dietJacopo C DiFrancesco, Francesca Ragona, Carmen Murano, et al.Pageof 8