Aicardi—Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population

I D.V.; Seregin S.A.; Proskokova T.N.

doi:https://doi.org/10.17116/jnevro2025125011131

И Д.В.

Краевое государственное автономное нетиповое образовательное учреждение «Хабаровский центр развития психологии и детства «Псилогия»;
ФГБОУ «Дальневосточный государственный медицинский университет» Минздрава России

Scopus AuthorID: 57226670660
ORCID: 0000-0002-9967-0279

Серегин С.А.

Общество с ограниченной ответственностью «Клиника Эксперт Хабаровск»

ORCID: 0000-0001-7495-7153

Проскокова Т.Н.

ФГБОУ ВО «Дальневосточный государственный медицинский университет» Минздрава России

ORCID: 0000-0002-5209-2440

Синдром Айкарди—Гутьерес 6-го типа, ассоциированный с компаунд-гетерозиготным вариантом в гене ADAR: первое описание клинического случая в российской популяции

Авторы:

И Д.В., Серегин С.А., Проскокова Т.Н.

Подробнее об авторах

Журнал: Журнал неврологии и психиатрии им. С.С. Корсакова. 2025;125(1): 131‑138

DOI: 10.17116/jnevro2025125011131

Прочитано: 1424 раза

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Оглавление

Как цитировать:

И Д.В., Серегин С.А., Проскокова Т.Н. Синдром Айкарди—Гутьерес 6-го типа, ассоциированный с компаунд-гетерозиготным вариантом в гене ADAR: первое описание клинического случая в российской популяции. Журнал неврологии и психиатрии им. С.С. Корсакова. 2025;125(1):131‑138.
I DV, Seregin SA, Proskokova TN. Aicardi—Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(1):131‑138. (In Russ.)
https://doi.org/10.17116/jnevro2025125011131

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

Использование инфографики авторами научных работ

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Комплексная бальнеофизиотерапия на этапе курортного лечения детей с церебральными параличами. Восстановительные биотехнологии, профилактическая, цифровая и предиктивная медицина. 2025;(3):29-37

Резюме / Abstract:

Синдром Айкарди—Гутьерес (САГ) — это редкое наследственное заболевание с различным типом наследования, проявляющееся прогрессирующей лейкоэнцефалопатией с ранним началом, имеющее общие черты с аутоиммунным заболеванием. В статье описывается первый в России случай САГ 6-го типа, ассоциированный с компаунд-гетерозиготой c.577С>G (p.Pro193Ala)+c.2304G>A (p.Trp768*) в гене ADAR. Статья дает более углубленное понимание САГ 6-го типа, обобщая мировую литературу и предлагая для практикующих врачей модели диагностики пациентов с клиническими подозрениями на САГ.

Ключевые слова / Keywords:

синдром Айкарди—Гутьерес

церебральный паралич

ген ADAR

секвенирование

Авторы / Authors:

И Д.В.

Scopus AuthorID: 57226670660
ORCID: 0000-0002-9967-0279

Серегин С.А.

Общество с ограниченной ответственностью «Клиника Эксперт Хабаровск»

ORCID: 0000-0001-7495-7153

Проскокова Т.Н.

ФГБОУ ВО «Дальневосточный государственный медицинский университет» Минздрава России

ORCID: 0000-0002-5209-2440

Дата поступления:

05.09.2024

Дата принятия в печать:

26.09.2024

Закрыть метаданные

Литература / References:

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