Except for CHRNA4, CHRNB2, and CHRNA2, almost all other genes showed phenotypic heterogeneity, particularly KCNT1 and GATOR1 complex-related genes, which demonstrated a wide pathogenicity spectrum, complicating the study of their specific pathogenic mechanisms in SHE and causing difficulty in clarifying the relationship between genotype and phenotype. The gene discussed is CHRNA2; the disease is sleep-related hypermotor epilepsy.