Pathogenic mutation impairs autophagy and neural development in Ohtahara syndrome

Takeaway

  • Loss-of-function DMXL2 mutations in Ohtahara syndrome impair autophagy leading to altered neuronal development, profound developmental impairment, and reduced life expectancy.

Why this matters

    Results point to autophagy as a key cellular process for central nervous system development and could inform future improvements in diagnosis and treatment of Ohtahara syndrome.