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:
Case Report
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
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author Climans, Seth Andrew
Mirsattari, Seyed M.
author_facet Climans, Seth Andrew
Mirsattari, Seyed M.
author_sort Climans, Seth Andrew
collection PubMed
description • 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 tonic–clonic.
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spelling pubmed-53855832017-04-14 Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome() Climans, Seth Andrew Mirsattari, Seyed M. Epilepsy Behav Case Rep Case Report • 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 tonic–clonic. Elsevier 2017-03-18 /pmc/articles/PMC5385583/ /pubmed/28413780 http://dx.doi.org/10.1016/j.ebcr.2017.03.003 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Climans, Seth Andrew
Mirsattari, Seyed M.
Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title_full Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title_fullStr Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title_full_unstemmed Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title_short Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
title_sort generalized epilepsy in baraitser–winter cerebrofrontofacial syndrome()
topic Case Report
url 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
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