| Literature DB >> 12034802 |
N P Poolos1, S Das, G D Clark, D Lardizabal, J L Noebels, E Wyllie, W B Dobyns.
Abstract
Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with mild mental retardation and epilepsy. Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected. This article reports two cases of males with SBH indistinguishable from the female phenotype, both resulting from somatic mosaicism for DCX mutation.Entities:
Mesh：
Substances：
Year: 2002 PMID： 12034802 DOI： 10.1212/wnl.58.10.1559
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910