title: A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
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.
authors.affiliation: UMR_S679 Neurologie and Thérapeutique Expérimentale, INSERM, Paris, France.
authors.forename: Bouchra Ouled Amar
authors.initials: BO
authors.lastname: Ben Cheikh
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baulac
authors.forename: Fatiha
authors.initials: F
authors.lastname: Lahjouji
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bouhouche
authors.forename: Philippe
authors.initials: P
authors.lastname: Couarch
authors.forename: Naima
authors.initials: N
authors.lastname: Khalili
authors.forename: Wafae
authors.initials: W
authors.lastname: Regragui
authors.forename: Stéphane
authors.initials: S
authors.lastname: Lehericy
authors.forename: Merle
authors.initials: M
authors.lastname: Ruberg
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Simon
authors.initials: S
authors.lastname: Heath
authors.forename: Taib
authors.initials: T
authors.lastname: Chkili
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
authors.forename: Mohamed
authors.initials: M
authors.lastname: Jiddane
authors.forename: Reda
authors.initials: R
authors.lastname: Ouazzani
authors.forename: Eric
authors.initials: E
authors.lastname: LeGuern