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Article

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

1 Jul 1998

Abstract excerpt

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited in a single pedigree with lissencephaly, a more severe disease which affects the male individuals. This clinical entity has been described as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9618162
DOI: 10.1093/hmg/7.7.1063

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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)PMID 9618162Read ↗

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.Semantic proximity Read ↗

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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.Semantic proximity Read ↗

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

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.Semantic proximity Read ↗

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.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 ↗

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

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