Associated Papers
A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.
Susgun S et al.
Annals of Clinical and Translational Neurology, 2025
A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.
Mou C et al.
Gene, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.
Gerik-Celebi HB et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
Papandreou A et al.
Biorxiv : the Preprint Server for Biology, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.
Tsukida K et al.
Brain Communications, 2022
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.
Bhardwaj NK et al.
Brain & Development, 2021
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA et al.
Computational and Structural Biotechnology Journal, 2020
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K 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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F et al.
Molecular Genetics and Metabolism, 0