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