An increasing amount of genetic data supports our understanding of the mechanisms underlying the development of the human brain. In the last decade, we have more opportunities to consider what differentiates humans and apes. As next-generation sequencing is still improving the efficiency and accuracy of diagnosing rare disorders, genetic results often remind us of what we have missed in unclear phenotypes of patients. What are our roles, then, as child neurologists? How can we better contribute to the life of patients and families until new therapeutic options become available? This manuscript focuses on the historical aspect of molecular biology that evolved in conjunction with the development of medical genetics in the research field of autism spectrum disorder.
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