Area of research
Psychiatry and Mental health · Genetics
Research interest
Research interests include Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Glycogen Storage Diseases and Myoclonus, and Genomic variations and chromosomal abnormalities.
A registry for Dravet syndrome: The Italian experience
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study
Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series
Pediatric epilepsy following neonatal seizures symptomatic of stroke
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
PRRT2 Mutations are the major cause of benign familial infantile seizures