Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants
Mutations in the human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) can instigate myoclonic-atonic and other generalized epilepsies in the afflicted individuals. We systematically examined fifteen hGAT-1 disease variants, all of which dramatically reduced or completely abolished GABA uptake act...
| Auteurs principaux: | , , , , , , , |
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| Format: | Article |
| Langue: | English |
| Publié: |
Frontiers Media S.A.
2023-01-01
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| Collection: | Frontiers in Neuroscience |
| Sujets: | |
| Accès en ligne: | https://www.frontiersin.org/articles/10.3389/fnins.2022.1074427/full |