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The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice.
Qu, Shimian; Zhou, Chengwen; Howe, Rachel; Shen, Wangzhen; Huang, Xuan; Catron, Mackenzie; Hu, Ningning; Macdonald, Robert L.
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  • Qu S; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: sherman.qu@vanderbilt.edu.
  • Zhou C; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: chengwen.zhou@vumc.org.
  • Howe R; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: rachel.k.howe@vumc.org.
  • Shen W; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: wangzhen.shen@vumc.org.
  • Huang X; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: sherrry.huangxuan@gmail.com.
  • Catron M; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: mac.catron@vumc.org.
  • Hu N; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic address: ningning.hu@vumc.org.
  • Macdonald RL; Departments of Neurology, Vanderbilt University, Nashville, TN 37232, United States of America; Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232, United States of America; Pharmacology, Vanderbilt University, Nashville, TN 37232, United States of America. Electronic ad
Neurobiol Dis ; 152: 105296, 2021 05.
Article en En | MEDLINE | ID: mdl-33582225
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de GABA-A / Convulsiones Febriles / Modelos Animales de Enfermedad / Síndromes Epilépticos Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de GABA-A / Convulsiones Febriles / Modelos Animales de Enfermedad / Síndromes Epilépticos Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article