A draft conceptual model of SLC6A1 neurodevelopmental disorder

A draft conceptual model of SLC6A1 neurodevelopmental disorder

IntroductionSLC6A1 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 target...

Full description

Bibliographic Details
Main Authors: Kimberly Goodspeed, Lindsay R. Mosca, Nicole C. Weitzel, Kyle Horning, Elijah W. Simon, Anna C. Pfalzer, Maya Xia, Katherine Langer, Amber Freed, Megan Bone, Maria Picone, Terry Jo V. Bichell
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Neuroscience
Subjects:
SLC6A1
GAT1
epilepsy
rare disease
natural history
disease concept
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2022.1026065/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2022.1026065/full

Similar Items