Bibliographic Details
| Title: |
GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics |
| Authors: |
Xinxiao Li, Shengnan Guo, Yangyang Sun, Jiangwei Ding, Chao Chen, Yuehui Wu, Peidong Li, Tao Sun, Xinjun Wang |
| Source: |
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
Epilepsy, Genetic epilepsy with febrile seizures plus, Seizures, GABRG2 gene, Mutations, Antiepileptic treatment, Medicine |
| More Details: |
Abstract Genetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a marked hereditary tendency inherited as an autosomal dominant trait. Patients with GEFS+ may develop typical febrile seizures (FS), while generalized tonic–clonic seizures (GTCSs) with fever commonly occur between 3 months and 6 years of age, which is generally followed by febrile seizure plus (FS+), with or without absence seizures, focal seizures, or GTCSs. GEFS+ exhibits significant genetic heterogeneity, with polymerase chain reaction, exon sequencing, and single nucleotide polymorphism analyses all showing that the occurrence of GEFS+ is mainly related to mutations in the gamma-aminobutyric acid type A receptor gamma 2 subunit (GABRG2) gene. The most common mutations in GABRG2 are separated in large autosomal dominant families, but their pathogenesis remains unclear. The predominant types of GABRG2 mutations include missense (c.983A → T, c.245G → A, p.Met199Val), nonsense (R136*, Q390*, W429*), frameshift (c.1329delC, p.Val462fs*33, p.Pro59fs*12), point (P83S), and splice site (IVS6+2T → G) mutations. All of these mutations types can reduce the function of ion channels on the cell membrane; however, the degree and mechanism underlying these dysfunctions are different and could be linked to the main mechanism of epilepsy. The γ2 subunit plays a special role in receptor trafficking and is closely related to its structural specificity. This review focused on investigating the relationship between GEFS+ and GABRG2 mutation types in recent years, discussing novel aspects deemed to be great significance for clinically accurate diagnosis, anti-epileptic treatment strategies, and new drug development. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1479-5876 |
| Relation: |
https://doaj.org/toc/1479-5876 |
| DOI: |
10.1186/s12967-024-05387-1 |
| Access URL: |
https://doaj.org/article/ada87dcb2f184d279f487a3ca01b4607 |
| Accession Number: |
edsdoj.87dcb2f184d279f487a3ca01b4607 |
| Database: |
Directory of Open Access Journals |
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