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HUMAN GENETICS

Repeat expansions in myoclonic epilepsy

Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.

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Fig. 1: Mechanisms underlying benign adult familial myoclonic epilepsy due to repeat expansion.

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Correspondence to Rosa Rademakers.

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van Blitterswijk, M., Rademakers, R. Repeat expansions in myoclonic epilepsy. Nat Genet 50, 477–478 (2018). https://doi.org/10.1038/s41588-018-0093-0

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