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Genetic epilepsy with febrile seizures plus (GEFS+)

https://doi.org/10.17749/2077-8333.2020.12.1S.S50-S56

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Abstract

Febrile seizures (FS) occur in about 2–3% of children aged 3 months to 5 years. Atypical febrile seizures are those with a focal component. Each subsequent febrile attack increases the risk of transformation into epilepsy. After the third febrile seizure, the risk of additional episodes of febrile seizures is already approaching 50%, and the risk of formation of epilepsy is 15.8%. Recent studies show the great contribution of genetic causes to the development of genetic epilepsy with febrile seizures plus (GEFS+). GEFS+ includes a combination of some febrile seizures with subsequent afebrile attack, or recurring febrile seizures after 6 years. The genetic causes of GEFS+ are both monogenic (in particular, disorders in the SCN1B, SCN1A, GABRG2, GABRD, SCN9A, STX1B, HCN1 genes, etc.) and copy number variations. Twin methods suggest that different genetic factors play a role in the case of FS, FS+ and FS with subsequent epilepsy. Genetic cause can be found in about 30% of cases, that affects not only the final diagnosis and prognosis for the patient, but also the prevention of disease in the family. In GEFS+ seizures are usually generalized tonic-clonic, less often myoclonic, myoclonic-atonic seizures, absences and status epilepticus, but sometimes they also describe focal seizures. The clinical picture of patients with GEFS+ varies from family febrile seizures (the least severe cases) to Drave-like syndrome (the most severe cases), although all of them have a predominantly normal level of intellect.

About the Author

A. A. Sharkov
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation

Artem A. Sharkov – MD, Research Associate, neurologist

WoS ResearcherID: AAO-7543-2020; SPIN-code: 8727-5997

2 Taldomskaya Str., Moscow 125412



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For citation:


Sharkov A.A. Genetic epilepsy with febrile seizures plus (GEFS+). Epilepsy and paroxysmal conditions. 2020;12(1S):S50-S56. (In Russ.) https://doi.org/10.17749/2077-8333.2020.12.1S.S50-S56

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)