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Neurogenetics. 2009 Feb;10(1):35-42. doi: 10.1007/s10048-008-0143-3. Epub 2008 Aug 29.

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.

Author information

1
UMR_S679 Neurologie and Thérapeutique Expérimentale, INSERM, Paris, France.

Abstract

We describe the clinical, radiographic, and genetic features of a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait. Six affected members of the family had partial complex seizures often associated with behavioral abnormalities. On MRI, three patients had a thickened irregular cortex in the lateral occipital lobes with small gyri. A high-density genome-wide scan with 10,000 SNPs established linkage by homozygosity mapping to a 14-Mb region on chromosome 6q16-q22. Candidate genes by function (TUBE1, GRIK2, GPRC6A, GPR6, NR2E1, MICAL1, and MARCKS) in this locus were screened for mutations.

PMID:
18758830
DOI:
10.1007/s10048-008-0143-3
[Indexed for MEDLINE]

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