Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Genomic variations and chromosomal abnormalities.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Treatment of MOG antibody associated disorders: results of an international survey.
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
<i>TBC1D24</i> genotype–phenotype correlation
Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling