Dennis M. Echevarria-Cooper

This study creates a mouse model of SCN2A-related DEE and shows it exhibits neuronal hyperexcitability, seizure susceptibility, and responsiveness to phenytoin.

This paper generates a Kcnb1R306C mouse model to study the effects of a voltage-sensing mutation in KCNB1, finding altered neurological and neurobehavioral phenotypes.

This study examines strain-dependent effects on neurobehavioral and seizure phenotypes in Scn2aK1422E mice, finding differences in anxiety-like behavior and seizure response between B6 and F1D2 backgrounds.

This study evaluates how the estrous cycle affects seizure susceptibility in Scn2aK1422E mice and finds no significant association, but notes disrupted estrous cyclicity in untreated females.

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