Different experiences of two PRRT2-associated self-limited familial infantile epilepsy

Abstract

AbstractTo analyze the clinical characteristics and PRRT2 gene mutation of self-limited familial infantile epilepsy and evaluate the treatment responses of different antiepileptic drugs in self-limited familial infantile epilepsy. We reviewed the clinical feature and genetic mutation results and treatment responses of two sibling sisters. They were detected with the PRRT2 gene mutation through Sanger sequencing. Elder sister was treated with oxcarbazepine oral suspension, while younger sister was treated with levetiracetam oral solution. The two sibling sisters exhibited PRRT2 heterozygous mutation inherited from their mother in c.649dupC p.(Arg217fs). Oxcarbazepine oral suspension had an immediate effect on the elder sister who was treated with it. However, levetiracetam oral solution had no effect on younger sister even though the dose was increased, but she got seizure-free after turning to oxcarbazepine oral suspension. Oxcarbazepine, which plays the mechanism of the sodium channel blockers, has a more significant effect than levetiracetam, which has no mechanism of the sodium channel blockers in self-limited familial infantile epilepsy. The PRRT2 gene of infantile epileptic patients with a family history of infantile convulsions or paroxysmal kinesigenic dyskinesia(PKD) could be detected by sanger sequencing and a biomarker to select antiepileptic drugs which play the mechanism of the sodium channel blockers could be utilized.