Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal NeuronsAyla Arslan 1, Pınar Öz 1
1Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Üsküdar University
This study introduces a multiscale framework, spanning from DNA to protein function and neural behavior. It presents a novel approach for investigating predicted pathogenic mutations in the GABAA receptor subunit, hypothesizing that epileptogenic mutations and proximal mutations, predicted as pathogenic, may produce similar effects on the CA1 pyramidal neuron model.
