title: Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.
abstract: A father and his daughter displayed strictly similar focal brain dysplasia at MR examination, characterized by regional medial posterior laminar sub-cortical grey matter heterotopia. To our knowledge, no family presenting such anomalies has yet been described. LIS1 and DCX gene defects were excluded. Collecting patients with such inherited dysplasia should improve our knowledge of the genetic basis of cortical malformations.
authors.affiliation: Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: N
authors.initials: N
authors.lastname: Deconinck
authors.forename: T
authors.initials: T
authors.lastname: Duprez
authors.forename: V
authors.initials: V
authors.lastname: des Portes
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: S
authors.initials: S
authors.lastname: Ghariani
authors.forename: C J M
authors.initials: CJ
authors.lastname: Sindic
authors.forename: G
authors.initials: G
authors.lastname: Sébire
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D007839:Functional Laterality; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009479:Neuropeptides / Q000235:genetics*; D009778:Occipital Lobe; D010296:Parietal Lobe
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human