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   Articles with "gabrg2" as a keyword



Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy

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recommendations! Published in 2018 at "Journal of the Chinese Medical Association"

DOI: 10.1016/j.jcma.2018.05.001

Abstract: Background: Epilepsy is a multifaceted and multistep disorder that disrupts the proper functioning of neurons. It is becoming increasingly clear that the responsiveness of neurons depends on the appropriate trafficking of ions across the channels… read more here.

Keywords: epilepsy; gabrg2; childhood absence; absence epilepsy ... See more keywords

A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

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recommendations! Published in 2025 at "Cell Death Discovery"

DOI: 10.1038/s41420-025-02759-4

Abstract: De novo mutations in voltage- and ligand-gated ion channels have been associated with an increasing number of cases of developmental and epileptic encephalopathies (DEEs), which often fail to respond to classic antiseizure medications. A de… read more here.

Keywords: mouse; mouse model; knock mouse; gabrg2 ... See more keywords

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

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recommendations! Published in 2025 at "Epilepsia"

DOI: 10.1111/epi.70045

Abstract: OBJECTIVE Variants in GABRG2, encoding the γ2 subunit of the γ-aminobutyric acid type A receptor, are linked to epilepsy phenotypes of varying severity, with gain-of-function (GoF) variants associated with the more severe phenotypes than loss-of-function… read more here.

Keywords: gabrg2 ala106thr; variant; recurrent gabrg2; language ... See more keywords

GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort

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recommendations! Published in 2022 at "BioMed Research International"

DOI: 10.1155/2022/3460792

Abstract: Idiopathic generalized epilepsy (IGE) is the most prevalent type of epilepsy with genetic origin. Mutations in ion channel genes have been identified as a common cause of IGE. Several studies have reported various epilepsy risk… read more here.

Keywords: idiopathic generalized; polymorphism; c588t polymorphism; gabrg2 ... See more keywords

The Effects of Gene Variations of GABRA2, GABRB1, GABRG2, GAD1 and SLC1A3 on Patients with Propofol During Anesthesia Induction

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recommendations! Published in 2021 at "Pharmacogenomics and Personalized Medicine"

DOI: 10.2147/pgpm.s326885

Abstract: Purpose Propofol is one of the most commonly used intravenous sedatives in general anesthesia, while the individual variations of propofol are apparent. The objective of this study was to investigate the influence of genetic variations… read more here.

Keywords: gabra2 gabrb1; slc1a3; anesthesia induction; gabrg2 ... See more keywords

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

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recommendations! Published in 2023 at "Frontiers in Physiology"

DOI: 10.3389/fphys.2023.1191927

Abstract: 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… read more here.

Keywords: dre; analysis; gabrg2; rs2304725 ... See more keywords