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Article

LIS1 duplication: expanding the phenotype.

Journal of child neurology - 1 Jun 2012

Lockrow Jason P, Holden Kenton R, Dwivedi Alka, Matheus Maria G, Lyons Michael J

Abstract excerpt

Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white...

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Identifiers

PMID: 22190508
DOI: 10.1177/0883073811425972

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