estd208 (Helbig et al. 2013)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Bobby Koeleman
- Description:
- Genetics and particularly Copy Number Variations (CNVs) have emerged as significant genetic risk factors for epilepsy. This study aimed to clarify the relevance of CNVs in patients with unclassified epilepsies and complex phenotypes. In total 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies (MCA), were clinically evaluated and screened for CNVs. Array CGH uncovered 88 rare CNV). We conclude that Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broad range of epilepsies. See Variant Summary counts for estd208 in dbVar Variant Summary.
- Publication(s):
- Helbig et al. 2013