AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Alison M. Muir, Lydie Bürglen et al.|Nature Communications|2019Cited by 249
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Yi Qian|The American Journal of Human Genetics|2016Cited by 103
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Angelo Russo, Gerhard Kluger et al.|Epilepsia|2023Cited by 43
Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Darius Ebrahimi‐Fakhari, Barbara Brechmann et al.|Human Mutation|2021Cited by 31