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Neurology. Clinical Practice|April 25, 2024
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case ReportMartina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, et al.European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.Pediatric Neurology|November 25, 2019
Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor EncephalitisRamona Cordani, Concetta Micalizzi, Thea Giacomini, 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.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.Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B <sub></sub> -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.Plos One|September 30, 2017
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic dietGerarda Cappuccio, Michele Pinelli, Marianna Alagia, et al.Epilepsia Open|February 25, 2023
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsyAntonella Riva, Roberta Roberti, Gianluca D'Onofrio, et al.Italian Journal of Pediatrics|July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' projectElisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.Multiple Sclerosis and Related Disorders|February 5, 2026
First demyelinating attack in children: A twelve year single center cohortAlessandro Santagostino Barbone, Thea Giacomini, Silvia Casabona, et al.Pageof 4