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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...

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Detalles Bibliográficos
Autores principales: Climans, Seth Andrew, Mirsattari, Seyed M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
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