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https://doi.org/10.14300/mnnc.2023.18046

A new pathogenic variant of the nucleotide sequence as a risk factor for the development of epilepsy and mental retardation

[Notes from practice]
Rashid Zhetishev; Olga Alexandrovna Golovkina; Zalina Mukhtarovna Uzdenova; Diana Aivarovna Karova; Irina Zhetisheva; Diana Arkhestova;

Mental retardation is a state of retarded or impaired cognitive development that is characterized by impaired abilities that appear during maturation and provide an overall level of intelligence. Mental retardation is often combined with symptomatic epilepsy. The etiology of these pathological conditions is often unclear. The case of mental retardation and convulsive syndrome in a 7-year-old girl with a previously unspecified pathogenic variant of the nucleotide sequence that was the cause of these pathologies is described.

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Keywords: mental retardation, epilepsy, nucleotide sequence, molecular genetic study