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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...
Autores principales: | Kasture, Ameya S., Fischer, Florian P., Kunert, Lisa, Burger, Melanie L., Burgstaller, Alexander C., El-Kasaby, Ali, Hummel, Thomas, Sucic, Sonja |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893286/ https://www.ncbi.nlm.nih.gov/pubmed/36741049 http://dx.doi.org/10.3389/fnins.2022.1074427 |
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