P37 – 2761: Neonatal epileptic encephalopathy with SLC13A5 mutation

Abstract

Objective To describe in detail the phenotype of a female patient with a SLC13A5 mutation. Methods The patient, a girl, was admitted for neonatal seizures followed in evolution by global developmental delay and epileptic encephalopathy, also truncal ataxia with chore-athetotic-like elements. The epilepsy was severe with a poor response to many antieplieptic drugs (AED) – in evolution she also developed focal seizures and 2 epileptic statuses. Various AEDs were tried and the seizures were finally controlled after 2 years with Phenobarbital added to the combination of Valproate and Levetiracetam. The child now has only occasional seizures (1 per year) but she has severe language delay, no prehension, she walks only supported with important ataxia and dykinetic movements. As a particularity she also has very dystrophic teeth. Results The patient was diagnosed after screening through RES EuroEPINOMICS through whole exome sequencing (WES) that showed a mutation in SLC13A5. The SLC13 gene family represents solute carrier proteins that encode for a sodium-sulfate/carboxylate cotransporters. Conclusion Phenotyping was performed thus concluding this is a rare case of early-onset epileptic encephalopathy with a phenotype wohse description is still in ongoing. For this reason we consider the detailed phenotypic description of this rare mutation as very important.