Functional characterisation of epilepsy-causing mutations

Increasing number of genetic variants affecting ion channel genes and associated with different forms of epilepsy has been identified in the recent years.

One of the important steps in understanding if and how these variants contribute to the disease phenotype is their functional characterisation using different in vitro and in vivo approaches. The initial screen of detected variants is often performed in Xenopus laevis oocytes or HEK cells and involves site-directed mutagenesis, RNA production and injection, cell culture methods and two-microelectrode or patch clamp technique. In addition, biochemical methods and immunocytochemistry are applied to examine the expression and localisation of affected channels.