Germline and somatic variants associated with hypothalamic hamartoma

Takeaway

  • Germline and somatic variants were identified in a proportion of patients with hypothalamic hamartoma (HH).

Why this matters

  • HH is a rare congenital, tumor-like malformation that forms during fetal development and is associated with drug-resistant epilepsy.

  • Identifying gene variants associated with the development of HH may improve disease diagnosis and help prepare caregivers.