Today is CACNA1A Awareness Day! During my PhD (and now postdoc) I have been investigating this intriguing gene. Check out my latest publication:
academic.oup.com/brain/advanc...
academic.oup.com
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
CACNA1A haploinsufficiency leads to a clinically variable phenotype ranging from ataxia to neurodevelopmental syndromes. Hommersom et al. investigate the u