National Academy of Sciences
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 …
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Understanding paralogous epilepsy–associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls
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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 …
