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

K Cai, J Wang, J Eissman, J Wang, G Nwosu… - Experimental …, 2019 - Elsevier
Abstract Background Mutations in SLC6A1 have been associated mainly with myoclonic
atonic epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in …
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A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.

K Cai, J Wang, J Eissman, G Nwosu, W Shen… - Experimental …, 2019 - europepmc.org
Background Mutations in SLC6A1 have been associated mainly with myoclonic atonic
epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a …

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

K Cai, J Wang, J Eissman, J Wang… - Experimental …, 2019 - pubmed.ncbi.nlm.nih.gov
Background Mutations in SLC6A1 have been associated mainly with myoclonic atonic
epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a …
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[HTML][HTML] A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function

K Cai, J Wang, J Eissman, J Wang, G Nwosu… - Experimental …, 2019 - ncbi.nlm.nih.gov
Background: Mutations in SLC6A1 have been associated mainly with myoclonic atonic
epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a …

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

K Cai, J Wang, J Eissman, G Nwosu, W Shen… - Experimental …, 2019 - europepmc.org
Background Mutations in SLC6A1 have been associated mainly with myoclonic atonic
epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a …