What’s new in: “Genetics in childhood epilepsy”

摘要

In recent years, different mutations in genes that control the excitability of neurons have been described in idiopathic childhood epilepsies. Most commonly, sodium/potassium channelopathies and GABA-receptor mutations are involved. Major progress has been made in the field of idiopathic generalised epilepsies associated with febrile seizures (GEFS+). It now is becoming clear that mutations should not only be looked for in familial cases, but also in sporadic cases, especially in infants and young children with unexplained severe epileptic encephalopathies. Many studies also define ‘epilepsy susceptibility genes’, which contribute to one’s individual genetic vulnerability to develop epilepsy. It should be realized, however, that in the most common idiopathic benign childhood epilepsies (benign rolandic and occipital epilepsies), major breakthroughs are still awaited. In addition, a better clinical description of the epileptic phenotypes is needed to explain more precisely the genotypic and phenotypic heterogeneity. Genetic studies are nowadays becoming a necessary diagnostic step in the evaluation of idiopathic childhood epilepsies, not only in familial cases, but also in sporadic cases.