The frequency of monogenic disease-causing variants in lacunar stroke


  • Monogenic mutations are causative in ≈1.5% of small vessel disease (SVD) stroke, and targeted high-throughput sequencing (HTS) is a reliable technique for determining genetic variants of SVD.

Why this matters

    The frequency of rare causative genetic variants in sporadic SVD populations is unknown and testing for such variants is both expensive and time-consuming. Less costly, more timely techniques are needed to identify these genetic variants, ultimately aiding in patient evaluation and education.