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Carphology by A Fo Ben

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Focus on focal epilepsy

Extraordinary claims need extraordinary evidence; which is why it is always reassuring when a major breakthrough is reported simultaneously by two groups. The discovery of DEPDC5 as a cause of 12% of familial epilepsy with variable foci represents a significant advance in the understanding of the focal epilepsies. This is a prime example of exome sequencing unravelling the aetiology in families too small for conventional linkage analysis and discovering a biologically plausible gene—but a gene where we know relatively little regarding its function.

Nature Genetics 2013 (Epub ahead of print)

Nat Genet 2013 …

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