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Genetics and genomics of epilepsies in Croatia - the present and the future

Epilepsy is one of the most common neurological diseases with an extremely heterogeneous pathophysiological background. Increasing body of evidence points to the importance of genetic factors in epilepsy inception. Progressive myoclonic epilepsies, a group of rare hereditary diseases, represent distinct clinical entities characterized by substantial clinical and genetic variability. Although many of the genes have been discovered that cause monogenic forms of epilepsies and whose mutations increase neuronal excitability, disrupt the synaptic transmission or impair the neuronal network development, the majority of epilepsies belong to complex diseases, caused by the interplay of environmental factors and multigenic inception patterns. New approaches, such as association studies or whole-genome sequencing, have enabled a better insight into the genetic risk factors responsible for pathophysiology of epilepsies. Genomic approaches will enable not only the discovery of new genetic risk variants, but will also add to the increased treatment efficacy and decreased appearance of medication side-effects. Currently, we perform genetic analyses for EPM1, EPM2A and EPM2B mutations at the Department for Functional Genomics. We are also preparing a diagnostic genomic panel for simultaneous analysis of 260 genes associated with epilepsy. The physicians working at the Referral Center for Epilepsy have diagnosed several patients with monogenic forms of epilepsy, some of whom will be presented, along with the diagnostic algorithms and therapeutic approaches applied. Of special interest is the case of a patient with the Lafora body disease diagnosed by genetic testing, in whom a vagal stimulator was implanted, resulting in a favorable therapeutic response, which represents a unique case in medical literature.

epilepsy; genes; diagnosis

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