ResearchBIORXIVApr 2
Preprint: Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy
Researchers discovered that mutations in a gene called THAP12 cause a severe type of childhood epilepsy called developmental and epileptic encephalopathy. Two siblings with this condition had two broken copies of the THAP12 gene (one from each parent), which stopped the gene from making enough of its protein. This finding helps explain why some children develop severe seizures early in life and could lead to better diagnosis and treatment options.
WHY IT MATTERSFamilies with children diagnosed with infantile spasms or Lennox-Gastaut syndrome now have a new genetic cause to test for, which could explain their child's condition and guide future treatment decisions.