title: Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report.
abstract: Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented with early-onset and drug-resistant seizures.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey. fincecik@yahoo.com.
authors.forename: Faruk
authors.initials: F
authors.lastname: Incecik
authors.forename: M Ozlem
authors.initials: MO
authors.lastname: Hergüner
authors.forename: Gülen
authors.initials: G
authors.lastname: Mert
authors.forename: Sevcan
authors.initials: S
authors.lastname: Erdem
authors.forename: Sakir
authors.initials: S
authors.lastname: Altunbaşak
mesh_terms: D002883:Chromosomes, Human, Pair 14; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D012303:Ring Chromosomes