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Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
Epilepsia|March 27, 2007
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, et al.
Epilepsia|September 17, 2013
Clinical dissection of early onset absence epilepsy in children and prognostic implicationsSergio Agostinelli, Patrizia Accorsi, Francesca Beccaria, et al.
Epilepsia|October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiologySimona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Pediatric Pulmonology|July 17, 2025
A Simplified, Regional Lung Ultrasound Score for Surfactant Administration in Neonatal RDS: A Prospective Observational StudyFrancesco Raimondi, Pasquale Dolce, Claudio Veropalumbo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 12, 2020
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patientsGanna Balagura, Antonella Riva, Francesca Marchese, et al.
Epilepsia|January 31, 2013
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significanceFederico Zara, Nicola Specchio, Pasquale Striano, 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.
Epilepsy & Behavior : E&B|October 7, 2021
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individualsEmilia Ricci, Anna Fetta, Livia Garavelli, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
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