Associated Papers
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A et al.
Autophagy, 2022
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL et al.
Epilepsia, 2018
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Saitsu H et al.
Nature Genetics, 2013
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