Whether mutations in the scn2a gene lead to pathogenesis is inconclusive. 1. Mutations in the scn2a gene are closely related to the development of the nervous system. Mutations in the scn2a gene can delay the inactivation of sodium channels, leading to sustained sodium in-flow at rest, chronic depolarization of the membrane potential, and an increase in cellular excitability, which may ultimately lead to the emergence of neurological disorders, such as epilepsy, mental retardation, schizophrenia, autism, and so on. 2. In recent years, the relationship between the type of mutation in the scn2a gene and its clinical phenotype has also been elucidated based on clinical studies. Mutations in the scn2a gene lead to alterations in the functional state of Nav1 channel 2, which is an important factor in the development of epilepsy. If the diagnosis of epilepsy is to be confirmed, it needs to be analyzed comprehensively with the patient’s history characteristics, clinical symptoms, physical examination, auxiliary examination and other information.