In the past years, several genes have been identified as causal in Developmental and Epileptic Encephalopathies (DEEs).
KCNB1 (potassium voltage-gated channel subfamily B member 1 or delayed rectifier potassium channel 1 [DRK1]) was reported for the first time by Torkamani et al in 2014 where a KCNB1 pathogenic variant were found in 3 individuals with developmental and encephalopathic epilepsy.
KCNB1 encodes Kv2.1 potassium channel and is expressed in various neurons and organs. Pathogenic variants of KCNB1 potassium channel impair the flow of potassium ions in the brain and cause global developmental delay, behavioral disorders, and epilepsy.
KCNB1 encephalopathy is a rare autosomal dominant genetic disorder but in most cases, the mutations are de novo.
KCNB1