RYR1 and cerebral cavernous malformation: He was diagnosed with CCM when he was 3 years old, and a subsequent genetic examination (Figure 1) highlighted a heterozygous pathogenic variant in a gene compatible with the patient’s clinical manifestations, which leans towards the diagnostic classification of CCM pathogenic variant of the dominant gene RYR1. In January 2023, he underwent a routine neurological check reporting an increased perception of fatigue, which negatively impacted his ability to perform school-based physical activities.