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Pathogenic ultra-rare variants in<i>SLC6A1, SLC6A11, GAD1 and GAD2</i>are new & recurrent GABAergic loci for GGE syndromes

2025-04-04

Abstract excerpt

There is a wealth of biological evidence that supports the concept that GABAergic inhibition is causal to some genetic generalized epilepsy (GGE) syndromes. Much is known about postsynaptic GABAAR channelopathies, however, the presynaptic determinants are less well-defined such as the role of GABA transporters ( SLC6A1 / GAT1; SLC6A11 / GAT3), and GABA biosynthesis biology ( GAD1 / GAD67; GAD2 / GAD65). In respons...

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Literature Corpus work
7dd41750-2d50-560e-9206-a618e65ab59a
DOI
10.1101/2025.04.01.24316792
Open publication

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