WDR45 mutations define a novel disease entity—Static Encephalopathy of Childhood with Neurodegeneration in Adulthood


  • F Aminkeng

    Corresponding author
    • The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z4H4, Canada.
    Search for more papers by this author

e-mail: folefac@cmmt.ubc.ca


De novo mutations in the autophagy gene encoding WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Saitsu et al. (2013)

Nature Genetics 45(4): 445–449