4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models

We have studied the molecular mechanisms of variants in solute carrier Family 6 Member 1 associated with neurodevelopmental disorders, including various epilepsy syndromes, autism and intellectual disability. Based on functional assays of solute carrier Family 6 Member 1 variants, we conclude that p...

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Detalles Bibliográficos
Autores principales: Nwosu, Gerald, Mermer, Felicia, Flamm, Carson, Poliquin, Sarah, Shen, Wangzhen, Rigsby, Kathryn, Kang, Jing Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336585/
https://www.ncbi.nlm.nih.gov/pubmed/35911425
http://dx.doi.org/10.1093/braincomms/fcac144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336585/
https://www.ncbi.nlm.nih.gov/pubmed/35911425
http://dx.doi.org/10.1093/braincomms/fcac144

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