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Infantile spasm (IS) is an early-onset epileptic encephalopathy that usually presents with hypsarrhythmia on an electroencephalogram with developmental impairment or regression. In this study, whole-exome sequencing was performed to detect potential pathogenic  de novo  mutations, and finally we identified a novel damaging  de novo  mutation in  SEMA5A  and a compound heterozygous mutation in  CLTCL1  in three sporadic trios with IS. The expression profiling of  SEMA5A  in the human brain showed that it was mainly highly expressed in the cerebral cortex, during the early brain development stage (8 to 9 post-conception weeks and 0 to 5 months after birth). In addition, we identified a close protein-protein interaction network between  SEMA5A  and candidate genes associated with epilepsy, autism spectrum disorder (ASD) or intellectual disability. Gene enrichment and function analysis demonstrated that genes interacting with  SEMA5A  were significantly enriched in several brain regions across early fetal development, including the cortex, cerebellum, striatum and thalamus (q < 0.05), and were involved in axonal, neuronal and synapse-associated processes. Furthermore,  SEMA5A  and its interacting genes were associated with ASD, epilepsy syndrome and developmental disorders of mental health. Our results provide insightful information indicating that  SEMA5A  may contribute to the development of the brain and is associated with IS. However, further genetic studies are still needed to evaluate the role of  SEMA5A  in IS to definitively establish the role of  SEMA5A  in this disorder.

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms