KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
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Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
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Epilepsia - ISSN 0013-9580-66:5 (2025) p. 1613-1627
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International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
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Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14