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

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

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

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