Preprint: Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy
WHY IT MATTERS
Families 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.
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.
Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy Authors: Ochenkowska, K. et al. Server: medRxiv Category: neurology Abstract: Developmental and epileptic encephalopathies (DEEs) are a group of severe childhood-onset neurological disorders, often caused by rare genetic variants affecting brain development and excitability. Despite advances in genomic sequencing, a substantial proportion of DEE cases remain unsolved. Here, we identify THAP12 as a novel disease-causing gene associated with autosomal recessive DEE. Whole-genome sequencing in two siblings who presented with infantile spasms and progressed to Lennox-Gastaut syndrome revealed compound heterozygous variants in THAP12, leading to a reduction in protein abunda
ASK YOUR DOCTOR
If your child has been diagnosed with developmental and epileptic encephalopathy without a genetic cause identified, ask your neurologist whether THAP12 genetic testing should be considered as part of their diagnostic workup.