An advance about the genetic causes of epilepsy

Sun, Yu; Lu, Licheng; Li, Lanxin; Wang, Jingbo

doi:10.1051/e3sconf/202127103068

Cited by 4 publications

(4 citation statements)

References 73 publications

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“…Epilepsy is frequently associated with structural abnormalities in the brain, such as deformities, injuries, tumours, strokes, or infections [84][85][86][87][88]. In some cases, genetic or hereditary factors contribute to the development of epilepsy, with specific gene mutations or inherited disorders increasing seizure susceptibility [79,[89][90][91]. Metabolic abnormalities, including electrolyte imbalances or glucose metabolism disorders, can also play a role in epilepsy [92][93][94].…”

Section: Epilepsy: Overview and Current Management Strategiesmentioning

confidence: 99%

The Love Hormone and Seizure Control: A Review of Oxytocin’s Impact on Epilepsy Management

Makhado,

Gertie Makhado

2024

Oxytocin and Social Function

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Epilepsy is a neurological disorder characterised by recurrent seizures, which can significantly impact patient’s quality of life. While current management strategies for epilepsy, such as antiepileptic drugs and surgery, are effective for many patients, there is a need for novel therapies that can provide better seizure control and improve patients’ outcomes. Oxytocin, a neuropeptide known for its role in social bonding and trust, has emerged as a promising therapy for epilepsy. Preclinical studies have shown that oxytocin can reduce seizure activity and improve seizure outcomes in animal models of epilepsy. In contrast, clinical studies have suggested that oxytocin may reduce seizure frequency and severity in some epilepsy patients. This chapter reviews the current knowledge of oxytocin and epilepsy, including the potential mechanisms of oxytocin’s antiepileptic effects, the limitations and challenges of clinical studies, and future research directions and implications. The chapter also discusses the broader impact of oxytocin research on understanding social behaviour and neurological disorders. Overall, the chapter highlights the potential of oxytocin as a novel therapy for epilepsy management and underscores the need for further research.

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Section: Epilepsy: Overview and Current Management Strategiesmentioning

confidence: 99%

The Love Hormone and Seizure Control: A Review of Oxytocin’s Impact on Epilepsy Management

Makhado,

Gertie Makhado

2024

Oxytocin and Social Function

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“…Most commonly, mutations in ion channels including sodium, potassium, calcium, and chloride channels were associated with epilepsy, with the potassium channel in particular being the most commonly associated type. On the other hand, mutations in GLUT1 that lower its function were found in 12% of patients with early-onset absence epilepsy [ 93 ]. GLUT1 deficiency syndrome has also been linked with epilepsy, along with other disorders like microcephaly and developmental delay.…”

Section: Recent Examples Of Glut Associated Diseasesmentioning

confidence: 99%

Importance of GLUT Transporters in Disease Diagnosis and Treatment

Ismail

Tanasova

2022

IJMS

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Facilitative sugar transporters (GLUTs) are the primary method of sugar uptake in all mammalian cells. There are 14 different types of those transmembrane proteins, but they transport only a handful of substrates, mainly glucose and fructose. This overlap and redundancy contradict the natural tendency of cells to conserve energy and resources, and has led researchers to hypothesize that different GLUTs partake in more metabolic roles than just sugar transport into cells. Understanding those roles will lead to better therapeutics for a wide variety of diseases and disorders. In this review we highlight recent discoveries of the role GLUTs play in different diseases and disease treatments.

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“…One of the targets that affect AEDs is the neurotransmitter systems, and the neurotransmitters include γ-aminobutyric acid (GABA) and glutamate, as they act on the γ-aminobutyric acid type A receptor (GABA A R) to maintain brain excitation homeostasis, which plays a key role in inhibiting epilepsy (Macdonald et al, 2004;Maljevic et al, 2019). Because GABA A R is widely distributed in the central nervous system and they have the potential for postsynaptic inhibition, the GABA receptor is considered to be a hotspot for idiopathic generalized epilepsy susceptibility and is regulated by therapeutically important antiepileptic drugs (Yu Sun et al, 2021). GABA A receptors consist of four subunits, among which GABRA1, GABRB2, and GABRG2 genes encode the most common subunits, α1, β2, and γ2, respectively (Mulligan et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Association between the SLC6A11 rs2304725 and GABRG2 rs211037 polymorphisms and drug-resistant epilepsy: a meta-analysis

Zhao

Yang

et al. 2023

Front. Physiol.

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Background: Previous studies have shown that SLC6A11 and GABRG2 are linked to drug-resistant epilepsy (DRE), although there have been conflicting results in the literature. In this study, we systematically assessed the relationship between DRE and these two genes.Methods: We systematically searched the PubMed, Embase, Cochrane Library, Web of Science, Google Scholar, Wanfang Data, CNKI, and VIP databases. To clarify whether heterogeneity existed between studies, tools such as the Q-test and I2 statistic were selected. According to study heterogeneity, we chose fixed- or random-effects models for analysis. We then used the chi-squared ratio to evaluate any bias of the experimental data.Results: In total, 11 trials and 3,813 patients were selected. To investigate the relationship with DRE, we performed model tests on the two genes separately. The results showed that SLC6A11 rs2304725 had no significant correlation with DRE risk in the allele, dominant, recessive, and additive models in a pooled population. However, for the over-dominant model, DRE was correlated with rs2304725 (OR = 1.08, 95% CI: 0.92–1.27, p = 0.33) in a pooled population. Similarly, rs211037 was weakly significantly correlated with DRE for the dominant, recessive, over-dominant, and additive models in a pooled population. The subgroup analysis results showed that rs211037 expressed a genetic risk of DRE in allele (OR = 1.01, 95% CI: 0.76–1.35, p = 0.94), dominant (OR = 1.08, 95% CI: 0.77–1.50, p = 0.65), and additive models (OR = 1.14, 95% CI: 0.62–2.09, p = 0.67) in an Asian population.Conclusion: In this meta-analysis, our results showed that SLC6A11 rs2304725 and GABRG2 rs211037 are not significantly correlated with DRE. However, in the over-dominant model, rs2304725 was significantly correlated with DRE. Likewise, rs211037 conveyed a genetic risk for DRE in an Asian population in the allele, dominant, and additive models.

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An advance about the genetic causes of epilepsy

Cited by 4 publications

References 73 publications

The Love Hormone and Seizure Control: A Review of Oxytocin’s Impact on Epilepsy Management

The Love Hormone and Seizure Control: A Review of Oxytocin’s Impact on Epilepsy Management

Importance of GLUT Transporters in Disease Diagnosis and Treatment

Association between the SLC6A11 rs2304725 and GABRG2 rs211037 polymorphisms and drug-resistant epilepsy: a meta-analysis

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