title: Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.
abstract: Periventricular heterotopia (PH) involves dramatic malformations of the human cerebral cortex. Here we show that PH is closely linked to markers in distal Xq28 (maximal two-point lod score = 4.77 for F8C at theta = 0; maximal multipoint lod score = 5.37), so that affected females are obligatory mosaics for the mutation; that PH is lethal to at least some affected males; that PH malformations consist of well-differentiated cortical neurons filling the adult subependymal zone; and that individuals with PH are at high risk for epilepsy, though they have no other neurological or external stigmata. The PH gene may represent an important epilepsy susceptibility locus in addition to playing a key role in normal cortical development.
authors.affiliation: Department of Neurology, Beth Israel Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Ekşioğlu
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: P
authors.initials: P
authors.lastname: Cardenas
authors.forename: J
authors.initials: J
authors.lastname: Knoll
authors.forename: F
authors.initials: F
authors.lastname: DiMario
authors.forename: G
authors.initials: G
authors.lastname: Ramsby
authors.forename: M
authors.initials: M
authors.lastname: Berg
authors.forename: K
authors.initials: K
authors.lastname: Kamuro
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: G M
authors.initials: GM
authors.lastname: Duyk
authors.forename: J
authors.initials: J
authors.lastname: Parisi
authors.forename: P R
authors.initials: PR
authors.lastname: Huttenlocher
authors.forename: C A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D004829:Epilepsy, Generalized / Q000235:genetics / Q000473:pathology; D004833:Epilepsy, Temporal Lobe / Q000235:genetics / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005799:Genes, Dominant; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014960:X Chromosome