ARFGEF2 and infantile spasms: Herein, we presented a case of a patient with West syndrome who was ultimately diagnosed with ARPHM caused by a homozygous variant in the <i>ARFGEF2</i> gene.<h4>Methods</h4>To identify disease-causing mutations, we performed exome sequencing (ES) of a child with West syndrome, and subsequently employed a minigene splicing assay to evaluate the functional impact of the <i>ARFGEF2</i> gene splicing variant.<h4>Results</h4>The patient's clinical manifestations, examination results, treatment, and follow-up course were comprehensively documented.