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., Duprez, T., des Portes, V., Beldjord, C., Ghariani, S., Sindic, C., & Sébire, G. (2003). Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. Neuropediatrics, 34(3), 146-148. https://doi.org/10.1055/s-2003-41271 (Original work published 2003)