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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...

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Detalles Bibliográficos
Autores principales: Kasture, Ameya S., Fischer, Florian P., Kunert, Lisa, Burger, Melanie L., Burgstaller, Alexander C., El-Kasaby, Ali, Hummel, Thomas, Sucic, Sonja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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