EPILEPSY AND GENETICS

The genetic component of epilepsy has been known for over two millennia. The most commonly reported types of genetic epilepsy show simple Mendelian inheritance. Autosomal dominant inheritance has been found within many families with epilepsy, often with decreased penetrance. Many specific mutations have been discovered involving different channels and receptors, and some may affect other mechanisms. Still, the specific mutations for most types of epilepsies are not known. The present paper discuss the genetic aspect of epilepsy through two families with known hereditary epilepsy. Different types of epilepsy can be caused by the same mutation, and vice versa; one type of epilepsy can be caused by different mutations. Thus, it was necessary to make a detailed interview with each affected member of the family. A semi-structured questionnaire was made and the interview was done in person and by telephone. In the questionnaire many different aspects of epilepsy were explored. A family-tree was made showing affected individuals in both families. The last part of the paper is a discussion about which type of inheritance that is most likely, what type of epilepsy affect the two families and if it is possible or not to tell which type of mutation causes the epilepsy. Because febrile seizure appeared in one of the families the inheritance within febrile seizures is also discussed