Genetic & Genomic MedicinemedRxivPreprint
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…·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.
DOI 10.1101/2025.04.01.24316792