Kathryn Rigsby
Overview
Explore the profile of Kathryn Rigsby including associated specialties, affiliations and a list of published articles.
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Articles
3
Citations
55
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Recent Articles
1.
Nwosu G, Mermer F, Flamm C, Poliquin S, Shen W, Rigsby K, et al.
Brain Commun
. 2022 Aug;
4(3):fcac144.
PMID: 35911425
We have studied the molecular mechanisms of variants in solute carrier Family 6 Member 1 associated with neurodevelopmental disorders, including various epilepsy syndromes, autism and intellectual disability. Based on functional...
2.
Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, et al.
Neurobiol Dis
. 2022 Jul;
172:105810.
PMID: 35840120
Objective: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order...
3.
Mermer F, Poliquin S, Rigsby K, Rastogi A, Shen W, Romero-Morales A, et al.
Brain
. 2021 May;
144(8):2499-2512.
PMID: 34028503
Solute carrier family 6 member 1 (SLC6A1) is abundantly expressed in the developing brain even before the CNS is formed. Its encoded GABA transporter 1 (GAT-1) is responsible for the...