Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human

Autor: Zhang, Qi, Forster-Gibson, Cynthia, Bercovici, Eduard, Bernardo, Alexandra, Ding, Fei, Shen, Wangzhen, Langer, Katherine, Rex, Tonia, Kang, Jing-Qiong

Publikováno v: In Experimental Neurology November 2023 369

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GABA A Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox–Gastaut Syndrome.

Autor: Nwosu, Gerald Ikemefuna, Shen, Wangzhen, Zavalin, Kirill, Poliquin, Sarah, Randhave, Karishma, Flamm, Carson, Biven, Marshall, Langer, Katherine, Kang, Jing-Qiong

Publikováno v: International Journal of Molecular Sciences; May2023, Vol. 24 Issue 9, p8458, 18p

γ-Aminobutyric acid transporter and GABA A receptor mechanisms in Slc6a1 ^+/A288V and Slc6a1 ^+/S295L mice associated with developmental and epileptic encephalopathies.

Autor: Shen W; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Nwosu G; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Brain Institute, Nashville, TN 37240, USA.; Department of Biochemistry, Cancer Biology, Neuroscience and Pharmacology, Meharry Medical College, Nashville, TN 37232, USA., Honer M; Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel 4070, Switzerland., Clasadonte J; Early Solutions, Neuroscience TA, UCB Biopharma SRL, Braine l'Alleud 1420, Belgium., Schmalzbauer S; Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel 4070, Switzerland., Biven M; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Langer K; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Flamm C; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Poliquin S; Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Brain Institute, Nashville, TN 37240, USA., Mermer F; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Dedeurwaerdere S; Early Solutions, Neuroscience TA, UCB Biopharma SRL, Braine l'Alleud 1420, Belgium., Hernandez MC; Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel 4070, Switzerland., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Vanderbilt Brain Institute, Nashville, TN 37240, USA.; Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center of Human Development, Nashville, TN 37232, USA.

Publikováno v: Brain communications [Brain Commun] 2024 Apr 22; Vol. 6 (2), pp. fcae110. Date of Electronic Publication: 2024 Apr 22 (Print Publication: 2024).