Elena Freri

机构：Fondazione IRCCS Istituto Neurologico Carlo Besta · ORCID：0000-0002-2293-8687

发表论文 185 篇 · 总被引 4439 次 · h-index 36

代表论文

• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes (2024 · Nature Neuroscience · 被引 58)
• Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy (2024 · Frontiers in Cellular Neuroscience · 被引 13)
• Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach (2024 · Epilepsia Open · 被引 12)
• De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism (2024 · Journal of Clinical Investigation · 被引 10)
• Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant (2024 · Movement Disorders · 被引 5)
• Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes (2025 · Frontiers in Cellular Neuroscience · 被引 4)