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De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.
Liu, Nana; Li, Jinliang; Gao, Kai; Perszyk, Riley E; Zhang, Jing; Wang, Jingmin; Wu, Ye; Jenkins, Andrew; Yuan, Hongjie; Traynelis, Stephen F; Jiang, Yuwu.
Afiliación
  • Liu N; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Li J; Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases, Beijing, China.
  • Gao K; Children Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Perszyk RE; Department of Pediatrics, Central People's Hospital of Zhanjiang, Guangdong, China.
  • Zhang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Wang J; Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases, Beijing, China.
  • Wu Y; Children Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Jenkins A; Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China.
  • Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Epilepsia ; 64(11): 2968-2981, 2023 11.
Article en En | MEDLINE | ID: mdl-37577761
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Receptores de GABA-A / Epilepsia Tipo de estudio: Prognostic_studies Idioma: En Revista: Epilepsia Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Imprimir
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Receptores de GABA-A / Epilepsia Tipo de estudio: Prognostic_studies Idioma: En Revista: Epilepsia Año: 2023 Tipo del documento: Article País de afiliación: China