CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
Marina P. Hommersom, Nina Doorn, Sofía Puvogel, Elly Lewerissa, Annika Mordelt, Ummi Ciptasari, Franziska Kampshoff, Lieke Dillen, Ellen van Beusekom, Astrid R. Oudakker, Naoki Kogo, Amalia M. Dolga, Monica Frega, Dirk Schubert, Bart P.C. van de Warrenburg, , Hans van Bokhoven
This study characterizes a human neuronal model of CACNA1A haploinsufficiency, revealing synaptic deficits and increased intrinsic excitability linked to reduced potassium channel function.
Brain · Oct 26, 2024Peer-reviewedNeuroscience