Therapeutic use of the ketogenic diet in developmental and epileptic encephalopathy associated with an HCN1 gene variant: a pediatric case report

Abstract

Introduction: Developmental and epileptic encephalopathies of genetic origin are often associated with drug-resistant epilepsy and progressive neurological impairment. The ketogenic diet has been shown to be effective in some pediatric patients with refractory epilepsy. Materials and Methods: We report the case of a 5-year-old girl with generalized epilepsy of probable genetic origin. Clinical, electroencephalographic, and genetic evaluations were performed, identifying a variant of uncertain significance (VUS) in the HCN1 gene. The patient demonstrated refractoriness to multiple antiseizure medications, including valproic acid. Results: Due to persistent seizures, a ketogenic diet combined with topiramate was initiated. Significant clinical improvement was observed, and the patient continued the ketogenic diet as nutritional monotherapy. During a 3-month follow-up, no new epileptic seizures were documented. Conclusions: This case highlights the therapeutic potential of the ketogenic diet in pediatric patients with developmental and epileptic encephalopathy associated with genetic variants and drug-resistant epilepsy, representing an effective alternative when conventional antiseizure medications fail.