Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.
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.
Deconinck
N
N
Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Duprez
T
T
des Portes
V
V
Beldjord
C
C
Ghariani
S
S
Sindic
C J M
CJ
Sébire
G
G
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
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