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Epilepsy & Behavior Reports|March 31, 2022
Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulationMarco Perulli, Gianpaolo Cicala, Ida Turrini, et al.
Seizure|December 13, 2021
Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality riskMarco Perulli, Andrea Battista, Serena Sivo, et al.
Epilepsy & Behavior : E&B|July 11, 2024
Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progressChiara Porto, Marco Perulli, Chiara Arpaia, et al.
Genes|March 28, 2024
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the LiteratureValentina Trevisan, Anna Meroni, Chiara Leoni, et al.
Genes|March 29, 2023
Visual Function in Children with GNAO1-Related EncephalopathyMaria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, et al.
Genes|September 28, 2021
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype CorrelationsDomenica I Battaglia, Maria Luigia Gambardella, Stefania Veltri, et al.
Neurology|February 17, 2017
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutationsValentina Cetica, Sara Chiari, Davide Mei, et al.
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
Genes|April 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic StrategyFederica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo, et al.
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