ArticleEuropean journal of human genetics : EJHG2016
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)Autophagy · 2021Guideline
- Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).Autophagy · 2016Guideline
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.International journal of molecular sciences · 2025Article
- Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.International journal of molecular sciences · 2023Article
- Mouse models of Kcnq2 dysfunction.Epilepsia · 2022Review
- Quantitative retrospective natural history modeling ofAutophagy · 2022Article
- Review
- A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Phenotypic and Imaging Spectrum Associated With WDR45.Pediatric neurology · 2020Article
- Autophagy and disease: unanswered questions.Cell death and differentiation · 2020Review
- Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.Molecular genetics and metabolism reports · 2019Article
- A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.Neuromolecular medicine · 2019Article
- Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.Clinical case reports · 2018Article
- Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Epilepsia · 2018Article
- WDR45 mutations in three male patients with West syndrome.Journal of human genetics · 2016Review
- Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).Molecular genetics and metabolismArticle
- Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.Journal of pediatric neurosciencesArticle
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Authors and funding
6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically heterogeneous condition. WDR45 variants cause a childhood-onset encephalopathy accompanied by neurodegeneration in adulthood and iron accumulation in the basal ganglia. They have been almost exclusively found in females, and male lethality was suggested. Here we describe a male patient suffering from a severe and early neurological phenotype, initially presenting early-onset epileptic spasms in clusters associated with an abnormal interictal electroencephalography showing slow background activity, large amplitude asynchronous spikes and abnormal neurological development. This patient is a carrier of a 19.9-kb microdeletion in Xp11.23 containing three genes, including WDR45. These findings reveal that males with WDR45 deletions are viable, and can present with early-onset epileptic encephalopathy without brain iron accumulation.
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