Martino Montomoli

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

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Elena Parrini, Carla Marini, Davide Mei et al. · Human Mutation · 2016 · 162 citations

The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano et al. · Neurology · 2018 · 157 citations · Full text

<i>GNAO1</i> encephalopathy

Federica Rachele Danti, Serena Galosi, Marta Romani et al. · Neurology Genetics · 2017 · 102 citations · Full text

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L. Harms, Elena Parrini et al. · Brain · 2017 · 96 citations · Full text

Neurogenomics, Brain Development, Neurological Disorder +23