Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Source
Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model : identifying early biomarkers for functional and structural brain changes
Source
EBioMedicine - ISSN 2352-3964-121 (2025) p. 1-16
KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
Source
- (2025) p.
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Source
Epilepsia - ISSN 0013-9580-66:5 (2025) p. 1613-1627
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Source
- (2024) p.