So far, only one patients with a missense variant (NM_004961.3: c.1355G>A, NP_004952.2: p.Arg452Leu) in the GABRE gene was described to manifest infantile spasms, hypsarrhythmia, myelin development abnormalities, and brain dysplasia (Wang, Du, et al., 2017). Here, GABRE is linked to Hypsarrhythmia.