Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.
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ABSTRACT:
SUBMITTER: Climans SA
PROVIDER: S-EPMC5385583 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.
Climans Seth Andrew SA Mirsattari Seyed M SM
Epilepsy & behavior case reports 20170318
•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. ...[more]
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2019-06-27 | GSE125367 | GEO