Topic: P/Q-type voltage-gated calcium channels

ePoster: 2 ePosters

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

Differential distribution of key regulatory ion channels in excitatory synapses of the epileptic human brain revealed by freeze-fracture replica analysis

Walter Kaufmann, Alessandro Venturino, David Kleindienst, Karl Rössler, Thomas Czech, David Vandael, Maren Engelhardt, Sandra Siegert, Ryuichi Shigemoto · FENS Forum 2024

Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy. Though available anticonvulsants achieve a full seizure control for two-thirds of the TLE patients, one third does not respond sufficiently to these drugs and resection of the seizure area is the best possible treatment for them. One way to improve this is to identify key regulatory ion channels in excitatory synaptic function. Here, we investigated the ultrastructural localization of I) P/Q-type voltage-gated calcium channels (Cav2.1) at the presynaptic site triggering vesicle release and II) AMPA receptors mediating the

ePoster · Neuroscience