A draft conceptual model of SLC6A1 neurodevelopmental disorder

INTRODUCTION: SLC6A1 Neurodevelopmental Disorder (SLC6A1-NDD), first described in 2015, is a rare syndrome caused by a mutation in the SLC6A1 gene which encodes for the GABA Transporter 1 (GAT-1) protein. Epilepsy is one of the most common symptoms in patients and is often the primary treatment targ...

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Detalles Bibliográficos
Autores principales: Goodspeed, Kimberly, Mosca, Lindsay R., Weitzel, Nicole C., Horning, Kyle, Simon, Elijah W., Pfalzer, Anna C., Xia, Maya, Langer, Katherine, Freed, Amber, Bone, Megan, Picone, Maria, Bichell, Terry Jo V.
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/PMC9893116/
https://www.ncbi.nlm.nih.gov/pubmed/36741059
http://dx.doi.org/10.3389/fnins.2022.1026065

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