New GRIN2A gene variant by a patient with child epilepsy accompanied with a delay in development

Abstract

A mutation in the GRIN2A gene occurs in patients with pediatric idiopathic epilepsy. The main symptoms of the disease are acquired aphasia, auditory agnosia, dysarthria, dyspraxia with both homo- and heterozygotes. In this work a search for a variants of the GRIN2A gene was made by a patient with child epilepsy, accompanied by a developmental delay, as a result of which a mutation was detected, that led to the development of a pathological phenotype.