A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.

Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW, Kang JQ
Exp Neurol. 2019 320: 112973

PMID: 31176687 · PMCID: PMC6849469 · DOI:10.1016/j.expneurol.2019.112973

MeSH Terms (12)

Adolescent Animals GABA Plasma Membrane Transport Proteins HEK293 Cells HeLa Cells Humans Lennox Gastaut Syndrome Male Mutation, Missense Pedigree Protein Transport Rats

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