Association between G2677T/A polymorphism in ABCB1 gene and the risk of drug resistance epilepsy: An updated systematic review and meta-analysis

Krami, Al Mehdi; Ratib, Chorouk; Charoute, Hicham; Rouba, Hassan; Roky, Rachida; Barakat, Abdelhamid; Nahili, Halima

doi:10.1016/j.eplepsyres.2022.106977

Cited by 3 publications

(4 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Los genes de mayor interés incluyen el SCN1A y ABCB1, que codifican Pgp. Sin embargo, aún no hay variantes genéticas comunes asociadas con farmacorresistencia que puedan predecir este fenotipo; y se habla de que los pacientes con epilepsia resistente a fármacos pueden ser por variantes raras, las cuales pueden tener complejidades que hay que tomar en cuenta, como cambios en genoma órgano-específicos (mutaciones somáticas) y variaciones regionales órgano-específicas (microheterogeneidad espacial), las cuales aún no se han explorado (14,(20)(21)(22)(23) .…”

Section: Hipótesis De Variantes De Genesunclassified

Epilepsia resistente a fármacos: definición y mecanismos

Sequeira-Quesada

Céspedes-Valverde

Delgado-Gómez

et al. 2023

Rev Hisp Cienc Salud

View full text Add to dashboard Cite

La epilepsia es una enfermedad crónica que se caracteriza por crisis epilépticas recurrentes no provocadas debido a un aumento aberrante o a la sincronización de un grupo de neuronas. La epilepsia resistente a fármacos es cuando a pesar de utilizar dos o más fármacos en su dosis terapéutica, la persona sigue teniendo crisis recurrentes, esto afecta aproximadamente a un tercio de los pacientes. Existen múltiples hipótesis de mecanismos de resistencia, usualmente son variables y multifactoriales. Se puede dividir en tres grupos: mecanismos relacionados con la enfermedad, mecanismos relacionados a los fármacos y mecanismos genéticos. Aún faltan muchos estudios por realizar para comprender de una mejor manera estos mecanismos y generar diferentes propuestas de tratamiento.

show abstract

Section: Hipótesis De Variantes De Genesunclassified

Epilepsia resistente a fármacos: definición y mecanismos

Sequeira-Quesada

Céspedes-Valverde

Delgado-Gómez

et al. 2023

Rev Hisp Cienc Salud

View full text Add to dashboard Cite

show abstract

“…81 ABCB1). 83 Several genetic variants have been associated with SE severity and/or development of PTE. 70,84 Some of the variants identified include adenosine and its A1 receptor, apolipoprotein E, glutamic acid decarboxylase, neuronal high-affinity excitatory amino acid transporter, interleukin-1beta (IL-1β), and methylenetetrahydrofolate reductase (MTHFR).…”

Section: Identification Of Seizure Type and Selection Of Asm Treatmentmentioning

confidence: 99%

“…Such polymorphisms may result in enduring cellular depolarization, which can lead to refractory seizure disorders and SE. Others may encode for efflux or other transporters that reduce drug exposure in the brain (e.g., ABCB1) 83 . Several genetic variants have been associated with SE severity and/or development of PTE 70,84 .…”

Section: Therapeutic Drug Monitoring To Guide Asm Therapymentioning

confidence: 99%

Personalized antiseizure medication therapy in critically ill adult patients

et al. 2023

View full text Add to dashboard Cite

Precision medicine has the potential to have a significant impact on both drug development and patient care. It is crucial to not only provide prompt effective antiseizure treatment for critically ill patients after seizures start but also have a proactive mindset and concentrate on epileptogenesis and the underlying cause of the seizures or seizure disorders. Critical illness presents different treatment issues compared with the ambulatory population, which makes it challenging to choose the best antiseizure medications and to administer them at the right time and at the right dose. Since there is a paucity of information available on antiseizure medication dosing in critically ill patients, therapeutic drug monitoring is a useful tool for defining each patient's personal therapeutic range and assisting clinicians in decision‐making. Use of pharmacogenomic information relating to pharmacokinetics, hepatic metabolism, and seizure etiology may improve safety and efficacy by individualizing therapy. Studies evaluating the clinical implementation of pharmacogenomic information at the point‐of‐care and identification of biomarkers are also needed. These studies may make it possible to avoid adverse drug reactions, maximize drug efficacy, reduce drug–drug interactions, and optimize medications for each individual patient. This review will discuss the available literature and provide future insights on precision medicine use with antiseizure therapy in critically ill adult patients.

show abstract

“…In most cases, patients with epilepsy respond to antiepileptic drugs. Approximately one-third of patients prove to be medically intractable (Krami et al 2022).…”

Section: Introductionmentioning

confidence: 99%

Pharmacogenomic Analysis of Medial Temporal Lobe Epilepsy with Hippocampal Sclerosis in Humans and Animal Models

Guo

Liu

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Epilepsy is a neurological disorder caused by abnormal brain discharges. In recent years, genome-wide expression studies (GES) have been conducted using human patient samples and experimental models of epilepsy. Numerous molecular targets for epileptogenesis and treatment have been identified. However, there is still an urgent need to identify new biomarkers for epilepsy. Methods We performed a meta-analysis and convergence analysis of GES available from human samples and mouse and rat models to identify differentially expressed genes. Functional and pathway enrichment analysis of differentially expressed genes was performed using Sangerbox 3.0. Protein–protein interaction networks were mapped using STRING and subsequently visualized using Cytoscape. Disease gene–drug interactions were explored using the Comparative Toxicology Database and the Drug Gene Interaction Database. Results The ten most highly differentially expressed genes were, LRRTM1, STX1A, SNAP25, SYNPR, STXBP1, NRXN1, CPLX1, SYT4, SYT13 and GABRG2, which were supported by multi-lineage genomic evidence. A functional enrichment analysis identified several important classifications, including regulation of neuronal differentiation and regulation of vesicle-mediated transport. Potential druggable genes were also identified (e.g., LRRTM1, GABRG2, CYP4X1, CHGB and TMEM130). Conclusions We performed a meta-analysis and convergence analysis of GES from human samples and multiple animal models of epileptogenesis by integrating the results of several studies. We identified the top ten candidate genes and pathways for epileptogenesis. Among them, LRRTM1 and GABRG2 have been validated to have high druggable value. The other eight genes require further study to explore their potential as therapeutic targets in medial temporal lobe epilepsy with hippocampal sclerosis.

show abstract

Association between G2677T/A polymorphism in ABCB1 gene and the risk of drug resistance epilepsy: An updated systematic review and meta-analysis

Cited by 3 publications

References 50 publications

Epilepsia resistente a fármacos: definición y mecanismos

Epilepsia resistente a fármacos: definición y mecanismos

Personalized antiseizure medication therapy in critically ill adult patients

Pharmacogenomic Analysis of Medial Temporal Lobe Epilepsy with Hippocampal Sclerosis in Humans and Animal Models

Contact Info

Product

Resources

About