A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Neurogenetics
; 10(1): 35-42, 2009 Feb.
Article
em En
| MEDLINE
| ID: mdl-18758830
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 6
/
Malformações do Desenvolvimento Cortical
Limite:
Adult
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Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article