Early Neonatal Epilepsy Caused by Homozygous Mutation in the SLC13A5 Gene: A Case Report From India

Early neonatal seizures have myriad causes and variable prognoses. While acute symptomatic seizures are the most common events, a significant number of cases have a genetic background for such seizures, and a timely diagnosis can help in appropriate management and prognostication. We present a case of a neonate referred to our center with multi-focal clonic seizure starting from the first day of life. Routine metabolic, radiological, and electrographic studies failed to unravel the cause, necessitating whole exome sequencing (WES), which revealed a homozygous deletion of the SLC13A5 gene on chromosome 17. The patient's parents' Sanger sequencing confirmed heterozygous mutation at the same loci, consistent with an autosomal recessive inheritance. This is perhaps among the few case reports of neonatal epilepsy associated with such mutation reported from India; however, the literature on this topic is growing worldwide.