The patient was diagnosed with a rare congenital disease, "congenital glycosylation disorder, type 1aa, autosomal dominant, type 55, with seizures (MRD-55)."<h4>Conclusion</h4>We provide further evidence for the role of variants in <i>NUS1</i> in the development of tremors, epilepsy, and intellectual disabilities. The gene discussed is NUS1; the disease is glycogen storage disease VI.