Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy

Abstract

Abstract Recessive mutations in the SLC13A5 gene encoding the sodium‐dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss‐of‐function mutation in the SLC13A5 gene (c.1496C>T–p.Ser499Phe) and exhibiting an unusual extremely severe neonatal presentation with drug‐resistant seizures and burst‐suppression EEG pattern. Early carbamazepine use resulted in dramatic improvement both clinically and on EEG features. Follow‐up from the neonatal period to the age of 4 years is documented. This case expands the electro‐clinical phenotype associated with SLC13A5‐related disease and confirms the efficacy and safety of carbamazepine in nonstructural early‐onset epilepsies.