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Article

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

Neurology - 28 May 2002

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

Abstract excerpt

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 af...

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Source

Identifiers

PMID: 12034802
DOI: 10.1212/wnl.58.10.1559

Genes

DCX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12034802-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.PMID 12034802Read ↗

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].Semantic proximity Read ↗

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.Semantic proximity Read ↗

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.Semantic proximity Read ↗

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1Semantic proximity Read ↗

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.Semantic proximity Read ↗

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.Semantic proximity Read ↗

Familial pachygyria in both genders related to a DCX mutation.Semantic proximity Read ↗

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.Semantic proximity Read ↗

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.Semantic proximity Read ↗

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene.Semantic proximity Read ↗

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.Semantic proximity Read ↗

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