New mechanism discovered behind infant epilepsy
[PRESS RELEASE, 3 SEPT 2015] Scientists at Karolinska Institutet and Karolinska University Hospital in Sweden have discovered a new explanation for severe early infant epilepsy. Mutations in the gene encoding the protein KCC2 can cause the disease, hereby confirming an earlier theory. The findings are being published in the journal Nature Communications.Through large-scale genetic analyses of a family with two affected children at SciLifeLab in Stockholm , mutations were identified in the gene encoding the transport protein KCC2. In a collaboration with scientists