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CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature

The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language imp...

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Detalles Bibliográficos
Autores principales: Sun, Ying, Liu, Yi-Dan, Xu, Zhi-Feng, Kong, Qing-Xia, Wang, Yan-Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212609/
https://www.ncbi.nlm.nih.gov/pubmed/30397616
http://dx.doi.org/10.12998/wjcc.v6.i12.570