Maria Margherita Mancardi

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 582 citations · Full text

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

<i>TBC1D24</i> genotype–phenotype correlation

Simona Balestrini, Mathieu Milh, Claudia Castiglioni et al. · Neurology · 2016 · 126 citations · Full text

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Pasquale Striano, Antonietta Coppola, Marianna Pezzella et al. · Neurology · 2007 · 117 citations