Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome

Epilepsy Behav Case Rep. 2017 Mar 18;7:58-60. doi: 10.1016/j.ebcr.2017.03.003. eCollection 2017.

Abstract

•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.

Keywords: Baraitser–Winter cerebrofrontofacial syndrome; Dysmorphology; Generalized epilepsy; Video EEG.

Publication types

  • Case Reports