Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX

Nicholas P. Poolos, S. Das, G. D. Clark, D. Lardizabal, J. L. Noebels, E. Wyllie, W. B. Dobyns

Research output: Contribution to journalArticle

39 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1559-1562
Number of pages4
JournalNeurology
Volume58
Issue number10
DOIs
StatePublished - May 28 2002
Externally publishedYes

Fingerprint Dive into the research topics of 'Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX'. Together they form a unique fingerprint.

  • Cite this

    Poolos, N. P., Das, S., Clark, G. D., Lardizabal, D., Noebels, J. L., Wyllie, E., & Dobyns, W. B. (2002). Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology, 58(10), 1559-1562. https://doi.org/10.1212/WNL.58.10.1559