Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
Stéphanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T. Malintan, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric James Mallack, Timothy Blake Palculict, , Henry Houlden
This study identifies SLITRK3 mutations in humans linked to epileptic encephalopathy and shows their loss-of-function effect in neurons and mice, highlighting a role in synapse development and neurological function.
Frontiers in Molecular Neuroscience · Mar 1, 2024Peer-reviewedGenetics