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Seizure|August 5, 2025
Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort studyLaura Canafoglia, Mario Mastrangelo, Marco Russo, et al.
Molecular Neurobiology|February 1, 2018
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel GatingPaolo Ambrosino, Elena Freri, Barbara Castellotti, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 13, 2014
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophyJacopo C DiFrancesco, Francesca Novara, Orsetta Zuffardi, et al.
Journal of the American Heart Association|July 29, 2025
Cerebrospinal Fluid β-Amyloid and τ Levels in Patients With Iatrogenic Cerebral Amyloid Angiopathy, Sporadic Cerebral Amyloid Angiopathy, Alzheimer Disease, and ControlsUlf Jensen-Kondering, Nils G Margraf, Slaven Pikija, et al.
Frontiers in Neurology|May 1, 2020
Late-Onset Epilepsy With Unknown Etiology: A Pilot Study on Neuropsychological Profile, Cerebrospinal Fluid Biomarkers, and Quantitative EEG CharacteristicsElena Nardi Cesarini, Claudio Babiloni, Nicola Salvadori, et al.
Epilepsia|July 26, 2021
Comorbidities in patients with epilepsy: Frequency, mechanisms and effects on long-term outcomeGiorgia Giussani, Elisa Bianchi, Simone Beretta, et al.
Annals of Neurology|April 30, 2013
Anti-amyloid β autoantibodies in cerebral amyloid angiopathy-related inflammation: implications for amyloid-modifying therapiesFabrizio Piazza, Steven M Greenberg, Mario Savoiardo, 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.
Pharmacological Research|September 17, 2020
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathyMaria Virginia Soldovieri, Elena Freri, Paolo Ambrosino, et al.
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.
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