The Genetics of Epilepsy

Abstract

Epilepsy is a group of painful conditions caused by brain disorders, which are characterized by a persistent predisposition to epileptic seizures, as well as neurobiological, cognitive, psychological and social consequences. Currently, the overall prevalence of epilepsy in the world's population is 0.88% and ranges from 0.64% in developed countries to 1.00% in other countries. The prevalence of epilepsy in men is slightly higher than in women, and heredity varies between 25%-70%. According to the current classification, epilepsy includes four main forms: focal epilepsy, generalized epilepsy, combined focal and generalized epilepsy, and indeterminate epilepsy. The most common form of epilepsy is focal epilepsy, which accounts for 60% of all epilepsies. Currently, 14 genes associated with the development of epilepsy have been described, the functions of which are impaired by the presence of single nucleotide polymorphisms (SNPs). These SNPs can be located not only in the coding regions of genes (exons) or regulatory regions (eg., promoters), but also in their non-coding regions (introns), as well as in intergenic regions of DNA near a particular gene. Further research into the genetics of epilepsy should focus on developing new analytical approaches that will help uncover the unknown molecular genetic mechanisms of this group of disorders. Advances in the genetics of epilepsy will have a positive impact on clinical practice.

Вплив Раннього Втручання На Прогнозування Когнітивних Здібностей У Дітей Із Мовленнєвою Затримкою

“…Стрес, його тривалість, вік, у якому дитина знаходилась під впливом стресового фактора, оточення дитиниусе це також може мати значний вплив на розвиток мовлення. Важливу роль для успішної корекції мовленнєвих порушень буде мати комплексний підхід зі створенням сприятливих умов [12].…”