Seok Kyu Kang

Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant

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

Epilepsy and neurobehavioral abnormalities in mice with a KCNB1 pathogenic variant that alters conducting and non-conducting functions of KV2.1

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

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

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