Enhanced inhibition in hippocampal pyramidal neurons in a gain-of-function GABRB3 mouse model of epilepsy
Chaseley McKenzie, Khaing Phyu Aung, Lauren Bleakley, Susan Lin, Vivian Liao, Ming S Soh, Nathan Absalom, Rikke S Møller, Mary Chebib, Philip Ahring, Christopher Reid · FENS Forum 2024
Pathogenic variants in GABAA receptor subunits are a prominent cause of genetic epilepsies. Recent biophysical analysis of pathogenic GABRB3 variants reveals that both loss- and gain-of-function can cause epilepsy. Stratification shows that patients carrying gain-of-function variants experience an earlier onset of seizures that are refractory and have worse developmental delay compared to loss-of-function variant patients. This suggests that distinct pathological mechanisms underlie disease in each GABRB3 functional class. To date, research has only focused on loss-of-function variants. Here,
ePoster · Neuroscience