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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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
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- (2025) p. 1-42
KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
Source
- () 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
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- (2024) p.