Understanding paralogous epilepsy–associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls

Proceedings of the National Academy of Sciences, Volume 121, Issue 50, December 2024.
SignificancePathogenic variants in γ-aminobutyric acid type A (GABAA)-receptor subunits are associated with severe developmental and epileptic encephalopathies. For the advancement of precision medicine, understanding both the pathogenicity and functional …
Source : National Academy of Sciences