STX1B and atypical Rett syndrome: DEEs caused by synaptopathies gene variants are usually highly heterogeneous and lack clear genotype–phenotype associations, but neurodevelopmental disorders characterized by central vision impairment due to VAMP2 deficiency constitutes the SNARE complex and hand motor loss in Rett-like syndrome, and myoclonic seizures and subsequent ataxia caused by STX1B pathogenic variants are beneficial to clinical differential diagnosis (Spoto et al., 2022); neurological channelopathies have more related disease types.