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A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.
Guo, Yuxiong; Miao, Qinfei; Zhang, Yuxin; Wang, Chun; Liang, Mingjuan; Li, Xueping; Qiu, Weifeng; Shi, Gangan; Zhai, Qiongxiang; Chen, Zhihong.
Afiliación
  • Guo Y; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
  • Miao Q; Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
  • Zhang Y; Department of Neurology Rehabilitation, Guangdong Maternal and Child Hospital, Guangzhou, China.
  • Wang C; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
  • Liang M; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
  • Li X; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
  • Qiu W; Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
  • Shi G; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
  • Zhai Q; Shantou University, Shantou, China.
  • Chen Z; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou, China.
Transl Pediatr ; 11(3): 396-402, 2022 Mar.
Article en En | MEDLINE | ID: mdl-35378956
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Transl Pediatr Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Transl Pediatr Año: 2022 Tipo del documento: Article