title: Schizencephaly: clinical spectrum, epilepsy, and pathogenesis.
abstract: After almost 60 years since the original description, we have reviewed the results of the more recent studies on schizencephaly in an attempt to delineate its imaging and clinical spectra of presentation and to point out the still unsettled controversies on its pathogenesis. The clinical picture is mainly based on the presence of motor deficits and mental retardation, but the severity of the clinical picture is extremely variable, mainly related to the size and location of the clefts and to the presence of associated cerebral malformations. By contrast, the outcome of epilepsy, which is present in about half of the cases and drug resistant in a third, is not strictly related to the severity of the malformation. Some clinical and functional magnetic resonance imaging studies have suggested that, beside the features of the anatomic damage, the functional reorganization of a malformed and unaffected cortex is most likely crucial in determining the clinical outcome. Review of the genetic studies and the more recent personal data suggests that the role of the EMX2 gene in schizencephaly, if any, is restricted to a minority of cases, leaving the etiopathogenesis of this brain malformation still a matter of study and debate.
authors.affiliation: Division of Child Neurology, IRCCS-Istituto Nazionale Neurologico C. Besta, Milan, Italy. granata@istituto-besta.it
authors.forename: Tiziana
authors.initials: T
authors.lastname: Granata
authors.forename: Elena
authors.initials: E
authors.lastname: Freri
authors.forename: Claudio
authors.initials: C
authors.lastname: Caccia
authors.forename: Veronica
authors.initials: V
authors.lastname: Setola
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.forename: Giorgio
authors.initials: G
authors.lastname: Battaglia
mesh_terms: D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology; D004827:Epilepsy / Q000209:etiology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009123:Muscle Hypotonia / Q000209:etiology; D009154:Mutation / Q000235:genetics; D038081:Organogenesis / Q000235:genetics; D011596:Psychomotor Disorders / Q000209:etiology; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins