Epilepsy is one of the most common neurological disorders with the incidence rate higher in developing states. It is a multifactorial ailment in which genetic diversity along with other factors plays an important role. The objective of this study was to assess the involvement of different risk factors including single nucleotide polymorphisms (SNPs) present in GABRA1 (rs2279020) and GABRG2 (rs211037) genes with the susceptibility to epilepsy in the targeted population. Blood samples of 180 subjects were taken and genotyped through tetra-primer amplification refractory mutation system-polymerase chain reaction technique. The obtained demographic and genotypic data were analyzed through different statistical tools including χ (chi-square) test and odds ratio. Parental consanguinity and family history of seizures were observed in a considerable number of cases of this study along with residency in industrial areas. But, no association of rs2279020 (χ = 0.900, P = 0.638) and rs211037 (χ = 0.045, P = 0.832) was observed with predisposition to epilepsy. However, GG genotype of rs2279020 was observed more in female cases as compared to male cases. Furthermore, TG haplotype was observed to be associated with the increased risk of developing epilepsy (χ = 9.097; OR = 2.586; P = 0.002). Genetic models also showed no correlation of the targeted SNPs with the susceptibility to epilepsy. The outcomes of the present study suggested that neither rs211037 nor rs2279020 were associated with increased susceptibility to epilepsy in the targeted population.
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http://dx.doi.org/10.1007/s10072-022-05947-7 | DOI Listing |
Life Sci
March 2025
Research Institute of Chinese Medical Clinical Foundation and Immunology & TCM Science and Research Center, Wenzhou TCM Hospital of Zhejiang Chinese Medical University, College of Basic Medical Science, Zhejiang Chinese Medical University, Zhejiang, China. Electronic address:
Aims: Numerous clinical studies have revealed a positive correlation between rheumatoid arthritis (RA) and an elevated risk of epilepsy. This study aimed to investigate the seizure susceptibility in the collagen-induced arthritis (CIA) mice model.
Main Methods: The classic CIA model was used to mimic RA pathogenesis in mice.
Epilepsy Behav
March 2025
Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Electronic address:
Background: Beliefs about one's own thinking process - metacognition - are thought to influence a person's susceptibility to anxiety and depression. We aimed to explore the association between metacognitive beliefs, psychological symptomatology, objective cognitive functioning and quality of life (QoL) among people with epilepsy.
Methods: We performed a cross-sectional study including adults with epilepsy who attended an outpatient clinic.
Epilepsia Open
March 2025
Department of Neurosurgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Objective: Mesial temporal lobe epilepsy (MTLE) is associated with disruptions in the temporo-amygdala-orbitofrontal (TAO) network, a key component of the limbic system. We aimed to investigate TAO network alterations in patients with MTLE using magnetoencephalography (MEG), which overcomes susceptibility artifacts that limit functional MRI analysis of the orbitofrontal cortex.
Methods: Nine seizure-free patients with MTLE post-temporal lobectomy and nine age- and sex-matched healthy controls were recruited.
BMC Neurol
March 2025
Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Background: Epilepsy is a severe neurological disorder characterized by persistent seizures and, in some patients, associated neurobiological, cognitive, and psychosocial consequences. It is influenced by various genetic factors, including the Ephrin-B2 (EFNB2) gene.
Methods: This study utilized bidirectional Mendelian randomization (MR) to explore the potential causal relationship between serum levels of EFNB2 and epilepsy using data from extensive genome-wide association studies (GWAS).
PLoS One
March 2025
Department of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).
Idiopathic epilepsy (IE) has a high prevalence and a severe clinical course in the Italian Spinone breed of dog. A genome-wide association study meta-analysis of 52 cases and 51 controls was conducted to identify genomic regions that may be involved with the development of IE. Subsequent to the meta-analysis, a set of 175 controls and an independent validation set of 23 cases and 23 controls were genotyped for SNPs showing suggestive association with IE to find variants exhibiting evidence of replicable association and to test the predictiveness of SNPs for IE status when combined in a weighted risk score.
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