Abstract:

Objective To analyze the clinical efficacy of ketogenic diet in the treatment of epilepsy with genetic etiology. Methods The clinical characteristics, ketogenic diet efficacy and prognosis of 10 epilepsy patients with genetic etiology treated in Wuxi Children's Hospital from April 2017 to March 2021 were retrospectively analyzed. Results here were 4 boys and 6 girls. The age of onset was 3 days to 16 months, and the age of ketogenic diet treatment ranged from 2 months to 12 years. The birth history was normal in each patient, and there was no abnormality in blood biochemistry, cranial MRI and hematuria genetic metabolism screening. SCN1A gene variation was found in 5 cases, and SLC2A1 gene variation was found in 2 cases. The other 3 cases had SCN2A, KIF1A and PIGA gene variation, respectively. During the follow-up period of 6 months to 4 years and 5 months after ketogenic diet, 4 cases had seizure free, including 2 cases of SLC2A1 variation and 2 cases of SCN2A and PIGA variation. Three patients with SCN1A variation had seizure reduction of more than 50%, and the other two patients with SCN1A variation had seizure reduction of less than 50%. The seizures of one child were significantly reduced after the addition of perampanel. The children with KIF1A gene variation had no significant improvement in seizures after ketogenic diet. Conclusions Ketogenic diet has a significant effect on some patients with refractory epilepsy, especially those with SLC2A1, SCN2A, PIGA and SCN1A variation. Identification of pathogenic genes is helpful to predict the efficacy of ketogenic diet.

Key words: ketogenic diet, epilepsy, gene variation