Marcello Scala

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi et al. · Nature Neuroscience · 2024 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17