Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes
Seo‐Kyung Chung, Kate V. Everett, Rhys Huw Thomas, Ed Dudley, Adam T. Higgins, Charlotte A. Jones, Anna V. Derrick, Jeffrey S. Davies, William Owen Pickrell, Susannah T. Bellows, Robert J. Harvey, Peter Bergin, Jonathan G.L. Mullins, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Mark I. Rees
The paper identifies ultra-rare variants in GABAergic genes associated with genetic generalized epilepsy syndromes and links their functional impact to epilepsy severity.
medRxiv · Apr 1, 2025 · PreprintGenetic & Genomic Medicine