De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms

Infantile spasm (IS) is an early-onset epileptic encephalopathy that usually presents with hypsarrhythmia on an electroencephalogram with developmental impairment or regression. In this study, whole-exome sequencing was performed to detect potential pathogenic de novo mutations, and finally we ident...

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Detalles Bibliográficos
Autores principales: Wang, Qiongdan, Liu, Zhenwei, Lin, Zhongdong, Zhang, Ru, Lu, Yutian, Su, Weijue, Li, Feng, Xu, Xi, Tu, Mengyun, Lou, Yongliang, Zhao, Junzhao, Zheng, Xiaoqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635550/
https://www.ncbi.nlm.nih.gov/pubmed/31354784
http://dx.doi.org/10.3389/fgene.2019.00605

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635550/
https://www.ncbi.nlm.nih.gov/pubmed/31354784
http://dx.doi.org/10.3389/fgene.2019.00605

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