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
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
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
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Hayflick SJ et al.
Brain : a Journal of Neurology, 2013
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB et al.
American Journal of Human Genetics, 2012
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