Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ashley Kahen"'
Autor:
Wendy K. Chung, Alexa R. Geltzeiler, Ashley Kahen, LeeAnne Green Snyder, Catherine Kentros, Cora Taylor, Elizabeth Brooks, Haluk Kavus
Publikováno v:
Journal of Medical Genetics. 59:536-543
BackgroundSLC6A1 encodes GAT-1, a major gamma-aminobutyric acid (GABA) transporter in the brain. GAT-1 maintains neurotransmitter homeostasis by removing excess GABA from the synaptic cleft. Pathogenic variants in SLC6A1 disrupt the reuptake of GABA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1920d6f200cb53434d886abe4208f64
https://doi.org/10.1136/jmedgenet-2021-107694
https://doi.org/10.1136/jmedgenet-2021-107694
Autor:
Ashley, Kahen, Haluk, Kavus, Alexa, Geltzeiler, Catherine, Kentros, Cora, Taylor, Elizabeth, Brooks, LeeAnne, Green Snyder, Wendy, Chung
Publikováno v:
Journal of medical genetics. 59(6)
Medical history interviews, seizure surveys, Vineland Adaptive Behavior Scales Second Edition and other behavioural surveys were completed by primary care givers of 28 participants in Simons Searchlight. All participants underwent clinical whole exom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8ad683f95e493b13c6ebd82e76dc72c
https://pubmed.ncbi.nlm.nih.gov/34006619
https://pubmed.ncbi.nlm.nih.gov/34006619