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A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
Lin, Kao-Min; Su, Geng; Wang, Fengpeng; Zhang, Xiaobin; Wang, Yuanqing; Ren, Jun; Wang, Xin; Yao, Yi; Zhou, Ying.
  • Lin KM; Department of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
  • Su G; Department of Neurosurgery, The People's Hospital of Rizhao, Jining Medical University, Rizhao, 276826, Shandong, China.
  • Wang F; Department of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
  • Zhang X; Department of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
  • Wang Y; Neuromedicine Center, the 174th Hospital of Chinese People's Liberation Army, Affiliated Chenggong Hospital of Xiamen University, Xiamen, 361004, Fujian, China.
  • Ren J; National Institute for Data Science in Health and Medicine, School of Information Science and Engineering, Xiamen University, Xiamen, 361101, Fujian, China.
  • Wang X; Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, School of Medicine, Xiamen University, Xiamen, 361102, Fujian, China. wangx@xmu.edu.cn.
  • Yao Y; Division of Epilepsy Surgery, Shenzhen Children's Hospital, No.7019 Yi-tian Road, Fu-tian District, Shenzhen, 518026, Guangdong, China. yaoyiseepi@126.com.
  • Zhou Y; National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University, 4221-120 South Xiang'an Road, Xiang'an District, Xiamen, 361102, Fujian, China. yingzhou@xmu.edu.cn.
BMC Pediatr ; 19(1): 400, 2019 11 01.
Article en En | MEDLINE | ID: mdl-31672125
ABSTRACT

BACKGROUND:

Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. CASE PRESENTATION Using parent-offspring trio targeted-exome sequencing, we identified a de novo heterozygous missense mutation c.3953A > G (p.N1318S) in SCN8A in a 3-year-and-9-month Chinese female patient with early infantile epileptic encephalopathy and a normal magnetic resonance imaging of the brain.

CONCLUSIONS:

This de novo mutation was only detected in the patient but not in her parents. Bioinformatic analysis indicates the pathogenicity of this mutation. Administration of the sodium channel blocker well controlled seizures in the patient. Therefore, we recommend trio targeted-exome sequencing as a routine method for pathogenic variant screening in patients with intractable epilepsy and a normal MRI.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Mutación Missense / Canal de Sodio Activado por Voltaje NAV1.6 Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Mutación Missense / Canal de Sodio Activado por Voltaje NAV1.6 Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article