Characterizing neurodevelopmental disease associated with GNAO1 variants

Takeaway

  • Pathogenic variants in GNAO1, which alter the guanosine triphosphate (GTP) binding region of the GNAO1 protein, result in seizures and movement disorders.          

Why this matters ?

  • The results highlight not only the importance of the GTP binding region of the GNAO1 protein in neurodevelopment disease but also the importance of early genetic diagnosis which might help improve disease prognosis.