Maria Margherita Mancardi
Istituto Giannina Gaslini(IT)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Neuroscience and Neuropharmacology Research
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond(2018)135 cited
- → Treatment of MOG antibody associated disorders: results of an international survey.(2020)133 cited
- → TBC1D24 genotype–phenotype correlation(2016)126 cited
- → An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy(2007)117 cited
- → KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum(2021)95 cited
- → The spectrum of intermediate SCN8A‐related epilepsy(2019)92 cited
- → Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations(2007)92 cited
- → Gluten Psychosis: Confirmation of a New Clinical Entity(2015)70 cited
- → Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD(2022)66 cited