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

• Published in: Frontiers in neuroscience Vol. 17; p. 1024388
• Main Authors: Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K., Demarest, Scott, Freed, Amber, Horning, Kyle J., Bichell, Terry Jo, Iannaccone, Susan T., Goodspeed, Kimberly
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Research Foundation 21.02.2023; Frontiers Media S.A
• Subjects: Age; Attention deficit hyperactivity disorder; Autism; autism spectrum disorder; Caregivers; Clinical trials; Convulsions & seizures; developmental regression; Epilepsy; Language; Language disorders; Medical records; Motor skill; neurodevelopmental disorder; Neurodevelopmental disorders; Neuroscience; Patients; Proteins; Seizures; Skills; SLC6A1; Sleep; Sleep disorders; Speech; Synaptic cleft; γ-Aminobutyric acid; epilepsy; developmental regression; SLC6A1; autism spectrum disorder; neurodevelopmental disorder
• ISSN: 1662-453X; 1662-4548; 1662-453X
• DOI: 10.3389/fnins.2023.1024388

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