THE CLINICAL AND GENETIC FEATURES OF SCN1A, SCN2A GENE RELATED PHENOTYPES IN PATIENTS WITH EPILEPSY AND INTELLECTUAL/DEVELOPMENTAL DISABILITY

Abstract

In nowadays, the problems of epilepsy in children still lead a huge place in pediatric neurology, caused by many controversies in the understanding of the essential problem, approaches in determining the priory diagnostic methods, and, of course, the treatment. For the neurologist in the inspection of a physician with epilepsy, the problem is not in the choice and calculation of the correct dose of the AED, but rather the differential diagnosis and the secondary conditions arising from epilepsy. The consequence of chronic seizures in the case of epilepsy is a gross cognitive deficit, possible physical damage (resulting from sudden seizures), economic damage from the constantly using of AEDs, a high risk of disability with low social status, and finally, low quality of life for the patient, his family and for the whole society [1].