GeneticsAnnals of NeurologyPeer-reviewed
High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra…·Jennifer A. Kearney
This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.
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