Underlying heterogeneity between homozygous and heterozygous STXBP1 mutations

Takeaway

  • Homozygous and heterozygous STXBP1 mutations share the three main clinical encephalopathy features, despite producing divergent cellular effects; however, homozygous mutant L446F leads to distinct symptoms, characteristic of Lennox-Gastaut syndrome.

Why this matters

    Increasing understanding of heterogeneity between homozygous and heterozygous disease mutations will help unveil underlying disease mechanisms, which is crucial for developing therapeutic strategies.