Abstract
The currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms of epilepsy are reviewed. The optimal methods for laboratory confirmation of epilepsy are: in the case of suspected chromosome pathology – the chromosomal microarray analysis; in the case of a disease with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA; and in the case of a disease suspected for a mitochondrial mutation – the mitochondrial DNA sequencing.
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