Background

epilepsia

Epilepsy and paroxysmal conditions

Эпилепсия и пароксизмальные состояния

2077-83332311-4088

IRBIS LLC

10.17749/2077-8333/epi.par.con.2023.156

epilepsia-930

Research Article

CLINICAL CASES

КЛИНИЧЕСКИЕ СЛУЧАИ

Variable clinic-EEG trajectories in male patients with PCDH19 clustering epilepsy

Вариабельные клинические и ЭЭГ-кривые у пациентов мужского пола с кластерной эпилепсией, связанной с мутацией в гене PCDH19

https://orcid.org/0000-0003-4639-6365

Дмитренко

Д. В.

Dmitrenko

D. V.

Дмитренко Диана Викторовна – д.м.н., заведующая кафедрой медицинской генетики и клинической нейрофизиологии Института постдипломного образования, заведующая лабораторией медицинской генетики, руководитель Неврологического центра Университетской клиники

Diana V. Dmitrenko – Dr. Med. Sc., Chief of Chair of Medical Genetics and Clinical Neurophysiology, Institute of Postgraduate Education, Head of Laboratory of Medical Genetics, Head of Neurological Center, University Clinic

WoS ResearcherID: H-7787-2016

1 Partizan Zheleznyak Str., Krasnoyarsk 660022

mart2802@yandex.ru

https://orcid.org/0000-0002-0980-2638

Шарков

А. А.

Sharkov

A. А.

Шарков Артём Алексеевич – научный сотрудник отделения психоневрологии и эпилептологии; руководитель направления «неврология»

Москва

Artem A. Sharkov – Researcher, Department of Neuropsychiatry and Epileptology; Head of Neurology Department

1 Ostrovityanov Str., Moscow 117997

8 corp. 5 Podolskoe Ave., Moscow 115093

https://orcid.org/0000-0001-9946-2878

Доморацкая

Е. А.

Domoratskaya

E. А.

Доморацкая Екатерина Алексеевна – ординатор кафедры медицинской генетики

Москва

Ekaterina A. Domoratskaya – Resident, Chair of Medical Genetics

2/1 bldg 1 Barrikadnaya Str., Moscow 125993

https://orcid.org/0000-0002-9678-6719

Усольцева

А. А.

Usoltseva

A. А.

Усольцева Анна Александровна – аспирант кафедры медицинской генетики и клинической нейрофизиологии Института профессионального образования

Красноярск

Anna A. Usoltseva – Postgraduate, Chair of Medical Genetics and Clinical Neurophysiology, Institute of Professional Education

Scopus Author ID: 57210425243

1 Partizan Zheleznyak Str., Krasnoyarsk 660022

https://orcid.org/0000-0002-7816-7535

Волков

И. В.

Volkov

I. V.

Волков Иосиф Вячеславович – к.м.н., врач невролог-эпилептолог

Новосибирск

Iosif V. Volkov – MD, PhD, Neurologist-Epileptologist

5 Vokzalnaya Magistral Str., Novosibirsk 630096

https://orcid.org/0000-0003-2519-4908

Пьянков

Д. В.

Pyankov

D. V.

Пьянков Денис Валерьевич – заведующий лабораторией

Москва

Denis V. Pyankov – Head of Laboratory

Moscow

ФГБОУ ВО «Красноярский государственный медицинский университет им. профессора В.Ф. Войно-Ясенецкого» Минздрава РоссииРоссияVoino-Yasenetsky Krasnoyarsk State Medical UniversityRussian Federation

ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России; МГЦ «Геномед»РоссияPirogov Russian National Research Medical University; “Genomed” Medical and Genetic CenterRussian Federation

ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияRussian Medical Academy of Continuing Professional EducationRussian Federation

МЦ «Сибнейромед»Россия“Sibneuromed” Medical CenterRussian Federation

МГЦ «Геномед»Россия“Genomed” Medical and Genetic CenterRussian Federation

2023

27092023

153

260–274

2023

Дмитренко Д.В., Шарков А.А., Доморацкая Е.А., Усольцева А.А., Волков И.В., Пьянков Д.В.

Dmitrenko D.V., Sharkov A.А., Domoratskaya E.А., Usoltseva A.А., Volkov I.V., Pyankov D.V.

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/930

Background

Background. The association between the protocadherin-19 (PCDH19) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females.

Objective

Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients.

Material and methods

Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed.

Results

Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients.

Conclusion

Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.

Актуальность

Актуальность. Связь между геном протокадгерина-19 (PCDH19) и эпилепсией предполагает, что Х-сцепленная наследственная форма его патогенного варианта поражает исключительно женщин. Согласно последним данным описаны мужчины с соматическим мозаицизмом, клиническая картина которого сходна с типичными проявлениями у женщин.

Цель

Цель: представить три новых случая кластерной эпилепсии, связанной с мутацией в гене PCDH19, у пациентов мужского пола.

Материал и методы

Материал и методы. Клинические данные были собраны из разных медицинских центров посредством личного общения между авторами исследования, что подразумевает отсутствие проведения оценки структурированной группы пациентов. Всем больным проводилось исследование индивидуальной панели генов эпилепсии на основе секвенирования нового поколения и полноэкзомного секвенирования с помощью системы NextSeq 500 (Illumina Inc., США).

Результаты

Результаты. У всех пациентов обнаружены ранее описанные мозаичные варианты гена PCDH19 (NM_001184880.1). По данным электроэнцефалографии у всех больных в лобно-височных областях отмечались диффузное замедление фонового ритма, межприступная региональная/мультирегиональная эпилептиформная активность и иктально-очаговый паттерн. Задержка миелинизации без очаговых нарушений выявлена на магнитно-резонансной томографии головного мозга у 2 пациентов в возрасте 3 лет.

Заключение

Заключение. Раннее выявление вышеуказанных особенностей должно улучшить раннюю диагностику и долгосрочное ведение пациентов с эпилепсией и мутациями в гене PCDH19.

Кластерная эпилепсияPCDH19протокадгерин-19магнитно-резонансная томографияМРТсоматический мозаицизм

Clustering epilepsyPCDH19protocadherin-19magnetic resonance imagingMRIsomatic mosaicism

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