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γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies.
Brain Commun. 2024 Apr 22;6(2):fcae110. doi: 10.1093/braincomms/fcae110. eCollection 2024.
Brain Commun. 2024.
PMID: 38650830
Free PMC article.
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models.
Nwosu G, Mermer F, Flamm C, Poliquin S, Shen W, Rigsby K, Kang JQ.
Nwosu G, et al. Among authors: mermer f.
Brain Commun. 2022 Jun 6;4(3):fcac144. doi: 10.1093/braincomms/fcac144. eCollection 2022.
Brain Commun. 2022.
PMID: 35911425
Free PMC article.
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Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, Shen W, Wang J, Rigsby K, Xu D, Mack T, Nwosu G, Flamm C, Stein M, Kang JQ.
Mermer F, et al.
Neurobiol Dis. 2022 Oct 1;172:105810. doi: 10.1016/j.nbd.2022.105810. Epub 2022 Jul 14.
Neurobiol Dis. 2022.
PMID: 35840120
Free PMC article.
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Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F, Poliquin S, Rigsby K, Rastogi A, Shen W, Romero-Morales A, Nwosu G, McGrath P, Demerast S, Aoto J, Bilousova G, Lal D, Gama V, Kang JQ.
Mermer F, et al.
Brain. 2021 Sep 4;144(8):2499-2512. doi: 10.1093/brain/awab207.
Brain. 2021.
PMID: 34028503
Free PMC article.
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Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD.
Poliquin S, Hughes I, Shen W, Mermer F, Wang J, Mack T, Xu D, Kang JQ.
Poliquin S, et al. Among authors: mermer f.
Exp Neurol. 2021 Aug;342:113723. doi: 10.1016/j.expneurol.2021.113723. Epub 2021 May 5.
Exp Neurol. 2021.
PMID: 33961861
Free PMC article.
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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.
Wang J, Poliquin S, Mermer F, Eissman J, Delpire E, Wang J, Shen W, Cai K, Li BM, Li ZY, Xu D, Nwosu G, Flamm C, Liao WP, Shi YW, Kang JQ.
Wang J, et al. Among authors: mermer f.
Mol Brain. 2020 May 12;13(1):76. doi: 10.1186/s13041-020-00612-6.
Mol Brain. 2020.
PMID: 32398021
Free PMC article.
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