GLRA1 and hyperekplexia: Whole-exome sequencing identified a de novo heterozygous nonsense variant c.593G > A (p.Trp198Ter) in the GLRA1 gene, confirming the diagnosis of hyperekplexia.<h4>Interventions</h4>Given the confirmed diagnosis and the mild nature of the symptoms, the previously prescribed antiepileptic drug (levetiracetam) was discontinued.