A locus for bilateral occipital polymicrogyria maps to chromosome 6q16¨Cq22
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- 作者：Bouchra Ouled Amar Ben Cheikh ; St¨¦phanie Baulac ; Fatiha Lahjouji ; Ahmed Bouhouche ; Philippe Couarch ; Naima Khalili ; Wafae Regragui ; St¨¦phane Lehericy ; Merle Ruberg and Ali Benomar ; et al.
- 关键词：Polymicrogyria ; Epilepsy ; Psychosis ; Homozygosity mapping ; Chromosome 6q16– ; q22
- 刊名：neurogenetics
- 出版年：2009
- 出版时间：February, 2009
- 年：2009
- 卷：10
- 期：1
- 页码：35-42
- 全文大小：303.7 KB
文摘
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. Ahigh-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.