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

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

IntroductionSLC6A1-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 GABA...

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Bibliographic Details
Main Authors: Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Kimberly Goodspeed
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neuroscience
Subjects:
SLC6A1
neurodevelopmental disorder
epilepsy
developmental regression
autism spectrum disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1024388/full

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