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
Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing.
Xie D et al.
Star Protocols, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.
Mou C et al.
Gene, 2025
A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN).
Peng Q et al.
Heliyon, 2024
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
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL et al.
Epilepsia, 2018
Select a paper to view details