[태그:] Genetic Testing

🎯[Key Highlights: 3 Takeaways] 1. Clinical Presentation (The “Diagnostic Odyssey”) The patient is a 7-month-old male with no significant prenatal or birth history. He presented to the ER with a generalized tonic-clonic seizure lasting 25 minutes, triggered by a low-grade fever. 2. Phenotypic Features (HPO-based) 3. Genomic Findings & Pathogenicity Genetic testing via a Targeted…