The difficulties of differential diagnosis of phenotypic manifestations of the genetic form of epilepsy. Description of the clinical case
https://doi.org/10.33667/2078-5631-2025-21-27-33
Abstract
SUMMARY
Objective. 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.
About the Authors
V. A. Karlov
The Russian University of Medicine
Russian Federation
Russian Federation
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
L. G. Geybatova
The Dagestan State Medical University
Russian Federation
Russian Federation
Geybatova Laura G., PhD Med, associate professor at Dept of Neurology of Faculty of Advanced Studies and Professional Retraining of Specialists
Makhachkala
P. N. Vlasov
The Russian University of Medicine
Russian Federation
Russian Federation
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
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For citations:
Karlov V.A., Geybatova L.G., Vlasov P.N. The difficulties of differential diagnosis of phenotypic manifestations of the genetic form of epilepsy. Description of the clinical case. Medical alphabet. 2025;(21):27-33. (In Russ.) https://doi.org/10.33667/2078-5631-2025-21-27-33
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