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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.

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第一作者： Felicia,Mermer

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

作者： Felicia,Mermer ^[1] ; Sarah,Poliquin ^[2] ; Shuizhen,Zhou ^[3] ; Xiaodong,Wang ^[4] ; Yifeng,Ding ^[3] ; Fei,Yin ^[5] ; Wangzhen,Shen ^[1] ; Juexin,Wang ^[6] ; Kathryn,Rigsby ^[2] ; Dong,Xu ^[6] ; Taralynn,Mack ^[2] ; Gerald,Nwosu ^[7] ; Carson,Flamm ^[2] ; Matthew,Stein ^[2] ; Jing-Qiong,Kang ^[8]

作者单位： Department of Neurology, Vanderbilt University Medical Center, USA. ^[1] The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA. ^[2] Department of Neurology, Children's Hospital, Fudan University, Shanghai, China. ^[3] Ciphergene in Beijing, China. ^[4] Department of Neurology, Xiangya Hospital of The Central-Southern University in Changsha, China. ^[5] Department of Electrical Engineering & Computer Science and Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA. ^[6] The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt University-Meharry Medical College Alliance, Nashville, TN, 37232, USA. ^[7] Department of Neurology, Vanderbilt University Medical Center, USA; Department of Pharmacology, Vanderbilt University, USA; Vanderbilt Kennedy Center of Human Development, University Medical Center, Nashville, TN, 37232, USA. Electronic address: Jingqiong.kang@vumc.org. ^[8]

关键词 Astrocytes Endoplasmic reticulum (ER)GABA transporter 1 (GAT-1)Myoclonic atonic epilepsy (MAE)Protein misfolding SLC6A1 Thalamus