CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
Marina Hommersom, Nina Doorn, Sofía Puvogel, Elly Lewerissa, Annika Mordelt, Ummi Ciptasari, Naoki Kogo, Monica Frega, Dirk Schubert, Bart van de Warrenburg, Nael Nadif Kasri, Hans van Bokhoven · FENS Forum 2024
Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and intellectual disability. To understand the pathological mechanisms of CACNA1A loss-of-function variants, we characterized a human neuronal model for CACNA1A haploinsufficiency, by differentiating isogenic induced pluripotent stem cell lines into glutamatergic neurons, and investigated the effect of CACNA1A haploinsufficiency on mature neuronal
ePoster · Neuroscience