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Epilepsia Open|January 31, 2023
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypesBarbara Castellotti, Laura Canafoglia, Elena Freri, et al.Journal of Neurology|March 22, 2019
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypesBarbara Castellotti, Francesca Ragona, Elena Freri, et al.Epilepsia|May 19, 2023
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetinePaolo Ambrosino, Francesca Ragona, Ilaria Mosca, et al.Frontiers in Cellular Neuroscience|April 22, 2024
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsyIlaria Mosca, Elena Freri, Paolo Ambrosino, et al.Neurobiology of Aging|December 6, 2011
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosisCinzia Tiloca, Antonia Ratti, Viviana Pensato, et al.Neurogenetics|April 6, 2011
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patientsBarbara Castellotti, Caterina Mariotti, Marco Rimoldi, et al.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.Epilepsia|October 24, 2025
Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjectsDavide Caputo, Roberta Solazzi, Barbara Castellotti, et al.Brain Sciences|August 6, 2020
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated PatientsAntonietta Coppola, Marta Ianniciello, Ebru N Vanli-Yavuz, 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.Pageof 8