title: Familial schizencephaly associated with EMX2 mutation.
abstract: We describe two brothers aged 8 and 10 affected by severe bilateral schizencephaly, carrying an identical point mutation of the homeobox gene EMX2. Both children had severe neurologic deficits and mental retardation, although they differed in the anatomic extent of the brain malformation and in the severity of the clinical picture. The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. The different morphoclinical pictures suggest that, besides the EMX2 mutation, other factors are relevant in determining the severity of the brain malformation and clinical picture.
authors.affiliation: Neurological Institute C. Besta, Milano, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Granata
authors.forename: L
authors.initials: L
authors.lastname: Farina
authors.forename: A
authors.initials: A
authors.lastname: Faiella
authors.forename: R
authors.initials: R
authors.lastname: Cardini
authors.forename: L
authors.initials: L
authors.lastname: D'Incerti
authors.forename: E
authors.initials: E
authors.lastname: Boncinelli
authors.forename: G
authors.initials: G
authors.lastname: Battaglia
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D004247:DNA / Q000235:genetics; D005801:Genes, Homeobox; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics; D017354:Point Mutation
chemical_list: D004247:DNA