epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333/epi.par.con.2024.183epilepsia-1047Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИA rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)Редкий генетический синдром Схюрс-Хоймакерса (синдром PACS1)https://orcid.org/0000-0001-9101-5213КожановаТ. В.KozhanovaT. V.

Кожанова Татьяна Викторовна – к.м.н., ведущий научный сотрудник, врач – лабораторный генетик ГБУЗ «НПЦ специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого ДЗМ»; доцент кафедры неврологии, нейрохирургии и медицинской генетики им. академика Л.О. Бадаляна педиатрического факультета ФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России.

ул. Авиаторов, д. 38, Москва 119620; ул. Островитянова, д. 1, Москва 117997

Tatyana V. Kozhanova – MD, PhD, Leading Researcher, Laboratory Geneticist, Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics, Pirogov Russian National Research Medical University.

38 Aviators Str., Moscow 119620; 1 Ostrovityanov Str., Moscow 117997

vkozhanov@bk.ruhttps://orcid.org/0000-0002-2400-0748ЖилинаС. С.ZhilinaS. S.

Жилина Светлана Сергеевна – к.м.н., ведущий научный сотрудник, врач-генетик ГБУЗ «НПЦ специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого ДЗМ»; доцент кафедры неврологии, нейрохирургии и медицинской генетики им. академика Л.О. Бадаляна педиатрического факультета ФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России.

ул. Авиаторов, д. 38, Москва 119620; ул. Островитянова, д. 1, Москва 117997

Svetlana S. Zhilina – MD, PhD, Leading Researcher, Geneticist, Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics, Pirogov Russian National Research Medical University.

38 Aviators Str., Moscow 119620; 1 Ostrovityanov Str., Moscow 117997

https://orcid.org/0000-0001-6020-0758МещеряковаТ. И.MeshcheryakovaT. I.

Мещерякова Татьяна Ивановна – к.м.н., ведущий научный сотрудник, врач-генетик ГБУЗ «НПЦ специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого ДЗМ», доцент кафедры общей и медицинской генетики медико-биологического факультета ФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России.

ул. Авиаторов, д. 38, Москва 119620; ул. Островитянова, д. 1, Москва 117997

Tatiana I. Meshcheryakova – MD, PhD, Leading Researcher, Geneticist, Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Associate Professor, Chair of General and Medical Genetics, Faculty of Medicine and Biology, Pirogov Russian National Research Medical University.

38 Aviators Str., Moscow 119620; 1 Ostrovityanov Str., Moscow 117997

МихайловаА. Д.MikhailovaA. D.

Михайлова Анна Дмитриевна – врач-невролог.

ул. Авиаторов, д. 38, Москва 119620

Anna D. Mikhailova – Neurologist, Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children.

38 Aviators Str., Moscow 119620

https://orcid.org/0000-0002-4653-9867КрапивкинА. И.KrapivkinA. I.

Крапивкин Алексей Игоревич – д.м.н., директор.

ул. Авиаторов, д. 38, Москва 119620

Alexey I. Krapivkin – Dr. Med. Sc., Director, Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children.

38 Aviators Str., Moscow 119620

https://orcid.org/0000-0003-0103-7422ЗаваденкоН. Н.ZavadenkoN. N.

Заваденко Николай Николаевич – д.м.н., профессор, заведующий кафедрой неврологии, нейрохирургии и медицинской генетики им. академика Л.О. Бадаляна педиатрического факультета.

ул. Островитянова, д. 1, Москва 117997

Nikolay N. Zavadenko – Dr. Med. Sc., Professor, Chief of Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics, Pirogov Russian National Research Medical University.

1 Ostrovityanov Str., Moscow 117997

Государственное бюджетное учреждение здравоохранения г. Москвы «Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого Департамента здравоохранения г. Москвы»; Федеральное государственное автономное образовательное учреждение высшего образования «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияVoyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical UniversityRussian FederationГосударственное бюджетное учреждение здравоохранения г. Москвы «Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого Департамента здравоохранения г. Москвы»РоссияVoyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for ChildrenRussian FederationФедеральное государственное автономное образовательное учреждение высшего образования «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияPirogov Russian National Research Medical UniversityRussian Federation202430062024162120129Copyright © Kozhanova T.V., Zhilina S.S., Meshcheryakova T.I., Mikhailova A.D., Krapivkin A.I., Zavadenko N.N., 20242024Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Михайлова А.Д., Крапивкин А.И., Заваденко Н.Н.Kozhanova T.V., Zhilina S.S., Meshcheryakova T.I., Mikhailova A.D., Krapivkin A.I., Zavadenko N.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/1047

PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic features, and rare seizures. The article describes a clinical case of PACS1 syndrome in a female patient with developmental delay, speech disorder, motor development delay and epilepsy coupled to described variants in PACS1 gene (rs398123009, chr11:6621120, c.607C>T, p.Arg203Trp). Knowing PACS1 syndrome molecular mechanisms is important not only for genotype-phenotypic correlation, but also for developing new therapeutic approaches that could improve the quality of patients’ life.

Синдром нарушения развития нервной системы PACS1 (синдром Схюрс-Хоймакерса (англ. Schuurs-Hoeijmakers syndrome); MIM 615009) – редкое аутосомно-доминантное генетическое заболевание, характеризующееся задержкой развития, интеллектуальным дефицитом, дисморфическими чертами, а иногда и судорогами. В статье представлен клинический случай синдрома PACS1 у пациентки с задержкой психоречевого и моторного развития, эпилепсией и описанными вариантами в гене PACS1 (rs398123009, chr11:6621120, c.607C>T, p.Arg203Trp). Знание молекулярных механизмов развития синдрома PACS1 важно не только для генотип-фенотипической корреляции, но и для разработки новых терапевтических подходов в лечении, которые могли бы улучшить качество жизни пациентов.

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The authors declare that there are no conflicts of interest present.