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Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder

INTRODUCTION: SLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes for gamma-aminobutyric acid (GABA) transporter type 1 (GAT1), which is responsible for reuptake of GAB...

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Detalles Bibliográficos
Autores principales:	Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K., Demarest, Scott, Freed, Amber, Horning, Kyle J., Bichell, Terry Jo, Iannaccone, Susan T., Goodspeed, Kimberly
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990465/ https://www.ncbi.nlm.nih.gov/pubmed/36895422 http://dx.doi.org/10.3389/fnins.2023.1024388

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