Мутации в гене GRIN2A встречаются у пациентов с детской идиопатической эпилепсией. Основными симптомами заболевания являются приобретённая афазия, слуховая агнозия, дизартрия, диспраксия как у гомо-, так и у гетерозигот. В данной работе был проведён поиск вариантов гена GRIN2A у пациента с детской эпилепсией, сопровождающейся задержкой развития, в результате чего была обнаружена мутация, приводящая к развитию патологического фенотипа. 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.
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