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Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype.
Fang, Zhixu; Xie, Lingling; Li, Xue; Gui, Jianxiong; Yang, Xiaoyue; Han, Ziyao; Luo, Hanyu; Huang, Dishu; Chen, Hengsheng; Cheng, Li; Jiang, Li.
Afiliación
  • Fang Z; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Xie L; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Li X; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Gui J; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Yang X; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Han Z; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Luo H; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Huang D; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Chen H; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Cheng L; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
  • Jiang L; Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136, Zhongshan Er Road, Yuzhong Distric
Seizure ; 101: 109-116, 2022 Oct.
Article en En | MEDLINE | ID: mdl-35944423
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Epilepsia / Canal de Sodio Activado por Voltaje NAV1.1 Límite: Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Epilepsia / Canal de Sodio Activado por Voltaje NAV1.1 Límite: Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article