Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders
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Objective: Pathogenic variants in the KCNQ2 gene cause a spectrum of neonatal onset epilepsy, from self-limited familial neonatal epilepsy (SeLNE; mild end) to developmental and epileptic encephalopathy (DEE; severe end). The ass... ...