NMDA receptor gene GRIN2A implicated in idiopathic focal epilepsy with rolandic spikes

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)

A recent study published in Nature Genetics analysed genetic material from 400 patients with IFE found heterozygous mutations in GRIN2A gene,the gene encoding the NMDA receptor NR2A subunit in 7.5 per cent of them,. In "rolandic epilepsy," which accounts for 15 per cent of cases of childhood epilepsy and therefore makes it the most common form of the condition, these mutations disrupt the function of the NMDA receptor, one of the brain's key ion channels.Further research will focus on the mechanisms behind how the mutation leads to epilepsy.

The study involved collaboration between two research networks EuroEPINOMICS and IonNeurOnet.

Reference

Johannes R Lemke et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 2013; DOI: 10.1038/ng.2728