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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, Felicia; Poliquin, Sarah; Zhou, Shuizhen; Wang, Xiaodong; Ding, Yifeng; Yin, Fei; Shen, Wangzhen; Wang, Juexin; Rigsby, Kathryn; Xu, Dong; Mack, Taralynn; Nwosu, Gerald; Flamm, Carson; Stein, Matthew; Kang, Jing-Qiong.
Afiliação
  • Mermer F; Department of Neurology, Vanderbilt University Medical Center, USA.
  • Poliquin S; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Zhou S; Department of Neurology, Children's Hospital, Fudan University, Shanghai, China.
  • Wang X; Ciphergene in Beijing, China.
  • Ding Y; Department of Neurology, Children's Hospital, Fudan University, Shanghai, China.
  • Yin F; Department of Neurology, Xiangya Hospital of The Central-Southern University in Changsha, China.
  • Shen W; Department of Neurology, Vanderbilt University Medical Center, USA.
  • Wang J; Department of Electrical Engineering & Computer Science and Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Rigsby K; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Xu D; Department of Electrical Engineering & Computer Science and Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Mack T; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Nwosu G; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt University-Meharry Medical College Alliance, Nashville, TN, 37232, USA.
  • Flamm C; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Stein M; The Neuroscience Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Kang JQ; 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.
Neurobiol Dis ; 172: 105810, 2022 10 01.
Article em En | MEDLINE | ID: mdl-35840120
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Tipo Ausência / Epilepsias Mioclônicas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neurobiol Dis Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Tipo Ausência / Epilepsias Mioclônicas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neurobiol Dis Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos