Idiopathic and symptomatic forms of genetic epilepsy
Abstract
According to the new classification of the epilepsies proposed in 2017 by The International League Against Epilepsy, idiopathic epilepsies are recommended to refer to genetic epilepsy, suggesting to consider the term “idiopathic” as outdated. In connection with this, a tendency arose to refer forms of epilepsy previously called “idiopathic” as genetic epilepsy. However, idiopathic epilepsy constitutes just a part among genetic epilepsies. The other groups resulting from this etiology are monogenic epilepsies (e.g., Dravet syndrome) as well as symptomatic epilepsies due to other genetically determined syndromes (e.g., biotinidase deficiency or neuronal ceroid lipofuscinosis). The distinction between the three groups comprising genetic epilepsy is important not only due to difference in related etiology and course, but also because specific treatment in some monogenic forms might be possible. Here, the major criteria for distinguishing between such epilepsy groups are presented.
About the Author
A. G. Malov
Vagner Perm State Medical University
Russian Federation
Russian Federation
Aleksandr G. Malov – Dr. Med. Sc., Associate Professor, Chair of Neurology and Medical Genetics, Vagner Perm State Medical University.
26 Petropavlovskaya Str., Perm 614990.
RSCI SPIN-code: 5679-2600
References
1. Scheffer I.E., Berkovich S., Capovilla G., et al. ILAE classification of the epilepsies: Position Paper of the ILAE Commission for Classification and TerminоIogy. Epilepsia. 2017; 58 (4): 512–21. https://doi.org/10.1111/epi.13709.
2. Avakyan G.N., Blinov D.V., Lebedeva A.V., Burd S.G., Avakyan G.G. ILAE classification of the epilepsies: the 2017 revision and update. Epilepsia i paroksizmalʹnye sostoania / Epilepsy and Paroxysmal Conditions. 2017; 9 (1): 6–25 (in Russ.). https://doi.org/10.17749/2077-8333.2017.9.1.006-025.
3. Epilepsy and epileptic status in adults and children. Clinical guidelines. 2021. Available at: https://npcpn.ru/doc/2021/kr-epilepsiya.pdf (accessed 24.11.2021).
4. Proposal for classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1985; 26 (3): 268–78.
5. Malov A.G. Rolandic epilepsy and rolandic complexes in monozygotic twins. The Neurological Journal. 2002; 7 (2): 25–7 (in Russ.).
6. Malov A.G. The optimized methods for diagnosis of hereditary forms of epilepsy. Epilepsia i paroksizmalʹnye sostoania / Epilepsy and Paroxysmal Conditions. 2017; 9 (4): 31–4 (in Russ.). https://doi.org/10.17749/2077-8333.2017.9.4.031-034.
7. Badalyan L.O. Pediatric neurology: study guide. 5th ed. Мoscow: MED-press-inform; 2019: 608 pp. (in Russ.).
8. Karnebeek C.D., Tiebout S.A., Niermeijer J., et al. Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol. 2016; 59: 6–12. https://doi.org/10.1016/j.pediatrneurol.2015.12.013.
9. Malov A.G., Vasil’eva E.S., Serebrennikova E.B. The criteria of early detection of biotinidase deficiency-based epilepsy. S.S. Korsakov’s Journal of Neurology and Psychiatry. 2016; 116 (4): 66–9 (in Russ.). https://doi.org/10.17116/JNEVRO20161164166-69.
Review
For citations:
Malov A.G. Idiopathic and symptomatic forms of genetic epilepsy. Epilepsy and paroxysmal conditions. 2022;14(1):91-95. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2022.107
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