double cortex/X-linked lissencephaly syndrome; X-linked subcortical laminar heterotopia/lissencephaly syndrome; subcortical band heterotopia X-linked
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Pathology
- mild brain malformation of the lissencephaly spectrum
- bilateral & symmetric plates or bands of gray matter found in the central white matter between the cortex & cerebral ventricles
- cerebral convolutions usually appear normal
Genetics
- associated with defects in DCX
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/300067
- ↑ des Portes V et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92:51-61, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9489699
- ↑ Gleeson JG et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92:63-72, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9489700