Pentanucleotide TTTCA repeat insertion causes benign adult familial myoclonic epilepsy

Takeaway

  • The pentanucleotide TTTCA repeat insertion and TTTTA repeat expansion in intron 1 of the YEATS2 gene is identified as the causative mutation of benign adult familial myoclonic epilepsy (BAFME).

Why this matters

    These findings further our understanding of the molecular basis of this type of epilepsy, which is caused by the same molecular pathology as with other BAFMEs.