Changing landscape of epilepsy genetic testing gives vast opportunities to both patients and clinicians. Significance of precise genetic diagnosis in patients affected by epilepsy cannot be overestimated: it not only gives the opportunities of personalized therapeutical approaches but is also associated with multiple additional benefits for patients, their families, and society. Although the burden of Mendelian and chromosomal diseases amenable to current diagnostic testing measures is unknown, recently, we have comprised a database of more than 880 human genes associated with monogenic diseases involving epilepsy or seizures, EpiGene database (http://www.kimg.eu/en/tools/epigene-database). Besides, more than 50 chromosomal syndromes are related to epilepsy or seizures. Currently, there are no recommendations or guidelines for genetic testing in epilepsy patients addressing specificities of next-generation sequencing technologies. However, as every genetic testing modality has its own characteristics of specificity/sensitivity, range of clinical indications, and possible bioethical and psychosocial implications, genetic testing in epilepsies must be properly selected and applied along with proper clinical genetics/genetic counseling services. In this chapter, an overview of genetic testing modalities and workflows taking into account genetic architecture of epilepsies is given, and practical aspects of genetic testing in epilepsies, including advantages/limitations and clinical utility of tests, are discussed.
Part of the book: Seizures