Maria Stella Vari

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek et al. · Nature Communications · 2018 · 493 citations · Full text

Epilepsy Therapies, Genetics, Genetic Epidemiology +22

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

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 140 citations · Full text

Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B_₆-dependent epilepsy

Barbara Plecko, Markus Zweier, Anaïs Begemann et al. · Journal of Medical Genetics · 2017 · 78 citations

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study

Paola De Liso, Federico Vigevano, Nicola Specchio et al. · Epilepsy Research · 2016 · 66 citations

Pediatrics, Anesthesiology