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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2018
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| 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 |