medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2025-21-27-33medalphabet-4594Research ArticleСтатьиСложности дифференциальной диагностики фенотипических проявлений генетической формы эпилепсии. Описание клинического случаяThe difficulties of differential diagnosis of phenotypic manifestations of the genetic form of epilepsy. Description of the clinical casehttps://orcid.org/0000-0001-5344-6178КарловВ. А.KarlovV. A.

Карлов Владимир Алексеевич , д. м. н., профессор, член-корр. РАН, заслуженный деятель науки РФ, почетный доктор Санкт-Петербургского НИПНИ им. В. М. Бехтерева, член Королевского медицинского общества Великобритании, член Нью-Йоркской академии наук, заместитель председателя правления Российского общества неврологов, президент Российской противоэпилептической лиги

Москва

Karlov Vladimir A., DM Sci, professor, RAS Corresponding Member, Honored Scientist of the Russian Federation, Honorary Doctor of The V. M. Bekhterev St. Petersburg National Research Medical Institute, Member of The Royal Medical Society of Great Britain, Member of The New York Academy of Science, President of Russian Antiepileptic League

Moscow

https://orcid.org/0000-0002-6455-2862ГейбатоваЛ. Г.GeybatovaL. G.

Гейбатова Лаура Гейбатовна, к. м. н., доцент кафедры неврологии ФПК и ППС

Махачкала, Республика Дагестан

Geybatova Laura G., PhD Med, associate professor at Dept of Neurology of Faculty of Advanced Studies and Professional Retraining of Specialists

Makhachkala

lauragey@mail.ruhttps://orcid.org/0000-0001-8321-5864ВласовП. Н.VlasovP. N.

Власов Павел Николаевич, д. м. н., профессор кафедры неврологии лечебного факультета Научно-образовательного института клинической медицины им. Н. А. Семашко, заслуженный врач РФ

Москва

Vlasov Pavel N., DM Sci (habil.), professor at Dept of Neurology, Faculty of Medicine, N. A. Semashko Scientific and Educational Institute of Clinical Medicine1, Honoured Doctor of Russia

Moscow

ФГБОУ ВО «Российский университет медицины» Минздрава РоссииРоссияThe Russian University of MedicineRussian FederationФГБОУ ВО «Дагестанский государственный медицинский университет» Минздрава РоссииРоссияThe Dagestan State Medical UniversityRussian Federation202523102025021Неврология и психиатрия (3)2733Copyright © Карлов В.А., Гейбатова Л.Г., Власов П.Н., 20252025Карлов В.А., Гейбатова Л.Г., Власов П.Н.Karlov V.A., Geybatova L.G., Vlasov P.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.med-alphabet.com/jour/article/view/4594

РЕЗЮМЕЦель исследования. Описание клинико-генетических характеристик пациентки с фармакорезистентной эпилепсией и пороками развития головного мозга, обусловленными ранее не описанными вариантами генов WDR 62 и STAG1.Материалы и методы. Клиническое наблюдение пациентки 20 лет с фармакорезистентной структурной фокальной эпилепсией, перенесшей хирургическое лечение эпилепсии и установку стимулятора блуждающего нерва. Анализ эпилептиформной активности оценивался по результатам видео-ЭЭГ-мониторингов как в бодрствовании, так и во время сна. Для выявления пороков развития мозга анализировались результаты проведения специализированного протокола магнитно-резонансной томографии (МРТ) головного мозга. Идентификация генетического варианта проводилась на основании секвенирования клинического экзома (NGS). Выявленные мутации были верифицированы методом прямого секвенирования по Сенгеру ДНК пациентки и ее родителей. Пациентка и ее родители подписали информированное согласие на публикацию полученных результатов обследования.Результаты. На основании выявленных клинических особенностей течения заболевания, семейного анамнеза, фармакорезистентности и безуспешности хирургического лечения сделано предположение о генетической природе заболевания. Выявлены ранее не описанные варианты генов WDR 62 и STAG1.Заключение. Учитывая трудности дифференциальной диагностики эпилептических энцефалопатий у взрослых, проведение полноэкзомного и полногеномного секвенирования нового поколения является необходимым методом диагностики при констатации фармакорезистентности даже для структурных форм эпилепсии.

SUMMARYObjective. Description of the clinical and genetic characteristics of a patient with pharmacoresistant epilepsy and brain malformations caused by previously undescribed variants of the WDR 62 and STAG1 genes.Materials and methods. Clinical observation of a 20-year-old patient with pharmacoresistant structural focal epilepsy who underwent surgical treatment of epilepsy and the installation of a vagus nerve stimulator. The analysis of epileptiform activity was evaluated based on the results of video EEG monitoring both during wakefulness and during sleep. To identify malformations of the brain, the results of a specialized protocol of magnetic resonance imaging (MRI) of the brain were analyzed. The identification of the genetic variant was carried out based on clinical exome sequencing (NGS). The identified mutations were verified by direct Sanger DNA sequencing of the patient and her parents. The patient and her parents signed an informed consent to the publication of the results of the examination.Results. Based on the identified clinical features of the course of the disease, family history, pharmacoresistance and unsuccessful surgical treatment, an assumption was made about the genetic nature of the disease. Previously undescribed variants of the WDR 62 and STAG1 genes have been identified.Conclusion. Given the difficulties of differential diagnosis of epileptic encephalopathies in adults, new-generation full-exome and full-genome sequencing is a necessary diagnostic method for determining pharmacoresistance, even for structural forms of epilepsy.

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