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
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.
Stige KE et al.
Clinical Case Reports, 2018
Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.
Morikawa M et al.
Brain & Development, 2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Takano K et al.
European Journal of Medical Genetics, 2017
WDR45 mutations in three male patients with West syndrome.
Nakashima M et al.
Journal of Human Genetics, 2016
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