Associated Papers
A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.
Mou C et al.
Gene, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration.
Shimizu T et al.
Human Molecular Genetics, 2023
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
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL et al.
Epilepsia, 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
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Redon S et al.
American Journal of Medical Genetics. Part A, 2017
Lessons from a pair of siblings with BPAN.
Zarate YA et al.
European Journal of Human Genetics : Ejhg, 2016
WDR45 mutations in three male patients with West syndrome.
Nakashima M et al.
Journal of Human Genetics, 2016
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.
Hoffjan S et al.
Molecular and Cellular Probes, 2016
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F et al.
Molecular Genetics and Metabolism, 0
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