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Neurology. Genetics|April 27, 2026
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel BlockersSandrine Cestèle, Alexander James Harper, Sebastian Marra, et al.Metabolic Brain Disease|November 28, 2017
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohortRaffaele Falsaperla, Maria Stella Vari, Irene Toldo, et al.Epilepsy & Behavior : E&B|February 3, 2009
Neuropsychological findings in patients with Unverricht-Lundborg diseaseEdoardo Ferlazzo, Antonella Gagliano, Tiziana Calarese, et al.Expert Review of Neurotherapeutics|January 17, 2020
Advances in genetic testing and optimization of clinical management in children and adults with epilepsyMarcello Scala, Amedeo Bianchi, Francesca Bisulli, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 10, 2018
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome)Nicola Tambasco, Federico Paolini Paoletti, Giulia Prato, et al.Frontiers in Pharmacology|November 10, 2022
Cannabidiol, ∆9-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patientsFederica Pigliasco, Sara Malaca, Alfredo Fabrizio Lo Faro, et al.American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.Frontiers in Pediatrics|July 28, 2022
Acute Neurological Presentation in Children With SARS-CoV-2 InfectionAntonella Riva, Gianluca Piccolo, Federica Balletti, et al.Epilepsia Open|April 17, 2026
Real-world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2-q13.1 duplication and deletion syndromes: A multicenter studyEmanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, et al.Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in PROSC as a novel cause of vitamin B -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.Pageof 77