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Page 1
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: kang jq. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome.
Shen W, Flamm C, Delahanty AJ, Casteel E, Biven M, DeLeeuw MB, Poliquin S, Nwosu G, Randhave K, Kang JQ. Shen W, et al. Among authors: kang jq. Epilepsia. 2024 Jan;65(1):204-217. doi: 10.1111/epi.17779. Epub 2023 Nov 29. Epilepsia. 2024. PMID: 37746768 Free PMC article.
γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies.
Shen W, Nwosu G, Honer M, Clasadonte J, Schmalzbauer S, Biven M, Langer K, Flamm C, Poliquin S, Mermer F, Dedeurwaerdere S, Hernandez MC, Kang JQ. Shen W, et al. Among authors: kang jq. Brain Commun. 2024 Apr 22;6(2):fcae110. doi: 10.1093/braincomms/fcae110. eCollection 2024. Brain Commun. 2024. PMID: 38650830 Free PMC article.
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. Among authors: kang jq. 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.
87 results