Understanding CaV2.1 dysfunction in neurological disorders: Insights from novel CRISPR/Cas9 mouse model and iPSC-derived neurons
Fanny Jaudon, Riccardo Ruggeri, Ilaria Musante, Sara Riccardi, Paolo Scudieri, Lorenzo Muzzi, Floriana Guida, Federico Zara, Lorenzo A. Cingolani · FENS Forum 2024
P/Q-type calcium channels, also known as CaV2.1, are voltage-gated Ca2+ channels (VGCCs) enriched at many central synapses where they control neurotransmitter release. Loss-of-function mutations in CACNA1A, the gene encoding the pore-forming α1 subunit of CaV2.1, underlie several neurological disorders, including episodic ataxia type II (EA2) and absence epilepsy.Despite the existence of several experimental models, the etiology of these diseases still remains poorly understood, preventing the development of effective therapeutic strategies.Here, we have developed a CRISPR/Cas9-mediated strate
ePoster · Neuroscience