Sunita N. Misra

This paper investigates the effects of the SCN2A p.K1422E variant in mice, showing mixed functional and behavioral impacts on neurons and neurodevelopmental phenotypes.

This paper identifies a KCNB1 pathogenic variant in mice that causes epilepsy and neurobehavioral abnormalities, mimicking human DEE features.

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.