Mutation underlying severe early infant epilepsy identified

Researchers have provided evidence that mutations in the gene encoding the protein KCC2 can cause severe early infant epilepsy.

The new research from the Karolinska Institutet and University College London has confirmed an earlier theory 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 that were later seen in another family with similarly-affected children, with two of the children in each family demonstrating similar symptoms.

KCC2 constitutes a chloride channel specifically localised in the brain and plays a major role in synaptic inhibition by maintaining a low concentration of chloride ions inside the neurons.

Anna Wedell, senior physician at Karolinska University Hospital and professor at the department of molecular medicine and surgery at Karolinska Institutet, said: "We have been able to prove that a defective function of the KCC2 protein causes epilepsy and hence that an imbalance in the brain's chloride ion regulation system can be the reason behind the disease."

She added that clinical trials are being conducted with a drug that, if successful, will compensate for this disrupted regulation and ameliorate the disease.