Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

Abstract Background SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic term...

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Bibliographic Details
Main Authors: Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung, Kimberly Goodspeed
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
SLC6A1
Neurodevelopmental disorder
Intellectual disability
Genetic
Epilepsy
Autism
Online Access:https://doi.org/10.1186/s11689-022-09449-7

Internet

https://doi.org/10.1186/s11689-022-09449-7

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