METHODS OF GENETIC RESEARCH FOR THE DIAGNOSISOF EPILEPSY

Epilepsy is a chronic brain disease characterized by repeated unprovoked attacks of motor, sensitive, vegetative, mental or psychological disturbances caused by excessive neuronal discharges in the gray matter of the cerebral cortex.

In most cases, epilepsy is genetically determined (hereditary or sporadic). Genetic forms of epilepsy fall into two broad categories: primary (idiopathic), when mutations in genes / loci trigger the onset of epilepsy, and secondary (symptomatic), when mutations in genes / loci cause disorders in the brain structure that trigger the onset of epilepsy. To date, genetic studies are necessary, both to clarify the diagnosis of a specific form of epilepsy, and to reveal new forms of epilepsy. Molecular genetic analysis becomes a routine method due to its increasing availability. At the same time, the spectrum of genetic research methods is very large, and to determine the diagnosis it is necessary to choose the most optimal one. The creation of an algorithm for diagnostic search for suspected hereditary forms of epilepsy is an important and urgent task, especially since carrying out these studies is a laborious and costly process.

The article discussed modern methods of genetic analysis used in the diagnosis of various forms of epilepsy.

Keywords: genetic research, molecular genetic examination, genetic panels, high-performance sequencing techniques, exome sequencing, genome sequencing, FISH method.