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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.

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第一作者： Wangzhen,Shen

第一单位： Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

作者： Wangzhen,Shen ^[1] ; Gerald,Nwosu ^[2] ; Michael,Honer ^[3] ; Jerome,Clasadonte ^[4] ; Svenja,Schmalzbauer ^[3] ; Marshall,Biven ^[1] ; Katherine,Langer ^[1] ; Carson,Flamm ^[1] ; Sarah,Poliquin ^[5] ; Felicia,Mermer ^[1] ; Stefanie,Dedeurwaerdere ^[4] ; Maria-Clemencia,Hernandez ^[3] ; Jing-Qiong,Kang ^[6]

作者单位： Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA. ^[1] 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. ^[2] Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel 4070, Switzerland. ^[3] Early Solutions, Neuroscience TA, UCB Biopharma SRL, Braine l'Alleud 1420, Belgium. ^[4] Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37232, USA.;Vanderbilt Brain Institute, Nashville, TN 37240, USA. ^[5] 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. ^[6]

关键词 GABA transporter 1 (GAT-1)GABAA receptors (GABAARs)endoplasmic reticulum retention epilepsy neurodevelopmental delay

DOI 10.1093/braincomms/fcae110

PMID 38650830

发布时间 2025-03-04

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γ-Aminobutyric acid transporter and GABA<sub>A</sub> receptor mechanisms in <i>Slc6a1<sup>+/A288V</sup></i> and <i>Slc6a1<sup>+/S295L</sup></i> mice associated with developmental and epileptic encephalopathies.

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γ-Aminobutyric acid transporter and GABA<sub>A</sub> receptor mechanisms in <i>Slc6a1<sup>+/A288V</sup></i> and <i>Slc6a1<sup>+/S295L</sup></i> mice associated with developmental and epileptic encephalopathies.

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