Furthermore, both studies reported that the de novo heterozygous mutation p. Glu178Ala in the CLCN6 gene is associated with West Syndrome, a severe form of epilepsy that typically presents in infancy and is characterised by developmental regression and specific seizure patterns known as infantile spasms (Peng et al., 2018; Wang Y. et al., 2017). The gene discussed is CLCN6; the disease is infantile spasms.