Recently, six missense variants in GABRA2 have been reported to cause early infantile epileptic encephalopathy (EIEE) (Butler et al., 2018; Maljevic et al., 2019; Orenstein et al., 2018): five were de novo and one was present in two affected siblings, inherited from a father who also presented the variant at low level in blood, indicating mosaicism. Here, GABRA2 is linked to infantile epileptic encephalopathy.