Time-course transcriptomic profiling of mouse hippocampi related to mild and severe types of KCNQ2-related epilepsy

KCNQ2-related epilepsy is caused by pathogenic variants in the KCNQ2 gene, which encodes a voltage-gated potassium ion channel subunit. The phenotypes are classified into mild self-limited familial neonatal epilepsy (SeLFNE) and severe neonatal-onset developmental and epileptic encephalopathy (DEE). Disease severity depends on the variant type and the degree of functional impairment of the ion channel. To gain deeper insight into when and how SeLFNE and DEE pathogenic variants affect each phenotype-related transcriptome, we performed a time-course RNA sequencing analysis in both model mouse hippocampi during periods of major neuronal events. The hippocampi were harvested from wild-type and mutant mice in the SeLFNE (Kcnq2 A306T strain) and DEE (Kcnq2 G290D strain) mouse models at six time points: postnatal day (P)8, P12, P16, P20, P32, and P64, with three biological replicates.