Genetic epilepsy with febrile seizures plus (GEFS+)
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 s...
Saved in:
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2020-07-01
|
| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/549 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850047995408547840 |
|---|---|
| author | A. A. Sharkov |
| author_facet | A. A. Sharkov |
| author_sort | A. A. Sharkov |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9d356ce0c46e4ba0b0f319b3b36ea294 |
| institution | DOAJ |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2020-07-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-9d356ce0c46e4ba0b0f319b3b36ea2942025-08-20T02:54:04ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882020-07-01121S10.17749/2077-8333.2020.12.1S.S50-S56490Genetic epilepsy with febrile seizures plus (GEFS+)A. A. Sharkov0Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityFebrile 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.https://www.epilepsia.su/jour/article/view/549genetic epilepsy with febrile seizures plusgefs+scn1bscn1agabrg2gabrdscn9astx1bhcn1 |
| spellingShingle | A. A. Sharkov Genetic epilepsy with febrile seizures plus (GEFS+) Эпилепсия и пароксизмальные состояния genetic epilepsy with febrile seizures plus gefs+ scn1b scn1a gabrg2 gabrd scn9a stx1b hcn1 |
| title | Genetic epilepsy with febrile seizures plus (GEFS+) |
| title_full | Genetic epilepsy with febrile seizures plus (GEFS+) |
| title_fullStr | Genetic epilepsy with febrile seizures plus (GEFS+) |
| title_full_unstemmed | Genetic epilepsy with febrile seizures plus (GEFS+) |
| title_short | Genetic epilepsy with febrile seizures plus (GEFS+) |
| title_sort | genetic epilepsy with febrile seizures plus gefs |
| topic | genetic epilepsy with febrile seizures plus gefs+ scn1b scn1a gabrg2 gabrd scn9a stx1b hcn1 |
| url | https://www.epilepsia.su/jour/article/view/549 |
| work_keys_str_mv | AT aasharkov geneticepilepsywithfebrileseizuresplusgefs |