Open access
Aug 2026
Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’Ivoire
A child with refractory epilepsy and behavioral disturbances in whom two rare variants were identified in the SLC2A1 and SMC1A genes illustrates the exceptional coexistence of SLC2A1 and SMC1A variants and underlines the value of early molecular diagnosis even in resource-limited contexts, to guide personalized management.
Kouakou Kouamé Cyprien, Doumbia-Ouattara Mariam, Dainguy Marie Evelyne et al.
· Journal of Pediatric Genetic... · 0 citations