Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

ABSTRACT:

Background

Benign infantile convulsions and paroxysmal dyskinesia are episodic cerebral disorders that can share common genetic bases. They can be co-inherited as one single autosomal dominant trait (ICCA syndrome); the disease ICCA gene maps at chromosome 16p12-q12. Despite intensive and conventional mutation screening, the ICCA gene remains unknown to date. The critical area displays highly complicated genomic architecture and is the site of deletions and duplications associated with various diseases. The possibility that the ICCA syndrome is related to the existence of large-scale genomic alterations was addressed in the present study.

Methodology/principal findings

A combination of whole genome and dedicated oligonucleotide array comparative genomic hybridization coupled

SUBMITTER: Roll P 

PROVIDER: S-EPMC2966418 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature