Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy

The KCNQ2 gene encodes voltage-gated potassium channel subunits that underlie the M-current, a repolarizing current that limits repetitive firing during long-lasting depolarizing inputs [1]. Mutations in this gene can result in disorders ranging from benign familial neonatal convulsions (BFNC) to early infantile developmental and epileptic encephalopathy (EIDEE) [2].

0