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Epileptic Disorders : International Epilepsy Journal with Videotape|May 3, 2024
Low-grade epilepsy-associated tumors: Epilepsy outcome and antiseizure medication discontinuation after lesionectomies as first-line surgical approach in pediatric populationPia Bernardo, Maria Rosaria Scala, Alfonso Rubino, et al.
BMC Neurology|September 3, 2020
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case reportClaudia Santoro, Teresa Giugliano, Pia Bernardo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2021
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?Pia Bernardo, Mauro Budetta, Ferdinando Aliberti, et al.
Children (Basel, Switzerland)|December 30, 2025
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 GeneAlfonso Rubino, Giorgia Bruno, Gabriella Errichiello, et al.
International Journal of Molecular Sciences|August 26, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature ReviewClaudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, et al.
Orphanet Journal of Rare Diseases|March 8, 2024
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 childrenAnna Fetta, Francesco Toni, Ilaria Pettenuzzo, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
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