Carlo Di Bonaventura

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano et al. · Nature Communications · 2019 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

Emanuela Dazzo, Manuela Fanciulli, Elena Serioli et al. · The American Journal of Human Genetics · 2015 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome)

Pasquale Striano, Vito Sofia, Giuseppe Capovilla et al. · Epilepsia · 2008 · 95 citations

Medicine, Pharmacology, Pharmacotherapy +16

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Patrick May, Simon Girard, Merle Harrer et al. · The Lancet Neurology · 2018 · 93 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Myoclonus epilepsy and ataxia due to <scp><i>KCNC</i></scp><i>1</i> mutation: Analysis of 20 cases and <scp>K</scp>⁺ channel properties

Karen Oliver, Silvana Franceschetti, Carol J. Milligan et al. · Annals of Neurology · 2017 · 89 citations · Full text

Medicine, Neurology, Neuroscience +17