Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
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
When Rett syndrome is due to genes other than MECP2.
Percy AK et al.
Translational Science of Rare Diseases, 2018
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