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424 Clinical Translational Approach to Targeted Therapy in SLC6A1-related Neurodevelopmental Disorder

OBJECTIVES/GOALS: SLC6A1-Related Neurodevelopmental Disorder (SLC6A1-NDD) is a leading genetic cause of epilepsy and autism. Haploinsufficiency of SLC6A1 leads to reduced uptake of GABA from the synaptic cleft, and increased extracellular GABA in mice. It is a candidate for gene transfer therapy, bu...

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Detalles Bibliográficos
Autores principales:	Goodspeed, Kimberly, Sirsi, Deepa, Gray, Steven, Rioux, Matthew, Guo, WeiRui, Iannaccone, Susan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2023
Materias:	Team Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129657/ http://dx.doi.org/10.1017/cts.2023.457

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