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Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
• Baraitser–Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations. • Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation. • Generalized epilepsy is seen in half of those with BWMS. • Seizures in BWMS can be absence, myoclonic, tonic, or toni...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385583/ https://www.ncbi.nlm.nih.gov/pubmed/28413780 http://dx.doi.org/10.1016/j.ebcr.2017.03.003 |