Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

Abstract excerpt

Background Microdeletions are known to confer risk to epilepsy, particularly at genomic rearrangement ‘hotspot’ loci. However, microdeletion burden not overlapping these regions or within different epilepsy subtypes has not been ascertained. Objective To decipher the role of microdeletions outside hotspots loci and risk assessment by epilepsy subtype. Methods We assessed the burden, frequency and genomic content...

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• Share to Epilepsy research and treatment
• Share to Genomic variations and chromosomal abnormalities
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