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.

identification-classification-position-specific-gabaa-receptor

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Understanding the effects of functionally unknown variants in epilepsy associated genes is crucial for elucidating disease pathophysiology and developing ...

Institution - Üsküdar University

Articles Published in JoVE