A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

BACKGROUND: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy nu...

Descripción completa

Detalles Bibliográficos
Autores principales: Du, Xiaonan, An, Yu, Yu, Lifei, Liu, Renchao, Qin, Yanrong, Guo, Xiaohong, Sun, Daokan, Zhou, Shuizhen, Wu, Bailin, Jiang, Yong-hui, Wang, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061518/
https://www.ncbi.nlm.nih.gov/pubmed/24885232
http://dx.doi.org/10.1186/1471-2350-15-62

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061518/
https://www.ncbi.nlm.nih.gov/pubmed/24885232
http://dx.doi.org/10.1186/1471-2350-15-62

Ejemplares similares