Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy could be attributed to a pathogenic CNV in 5% of patients, but understanding the implications of a CNV for an individual patient can be challenging.
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Scheffer, I., Mefford, H. Beyond the single nucleotide variant in epilepsy genetics. Nat Rev Neurol 10, 490–491 (2014). https://doi.org/10.1038/nrneurol.2014.146
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DOI: https://doi.org/10.1038/nrneurol.2014.146
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