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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model : identifying early biomarkers for functional and structural brain changes
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KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
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biorxiv- (2025) p.