Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.N196N
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GABRG2

NM_198904.4:p.N196N

Associated Papers

Association of GABRG2 gene polymorphisms with idiopathic generalized epilepsy in Egyptian children: a case-control study.

Wahba Y et al.

European Journal of Medical Research, 2025

Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population.

Ma M et al.

Journal of Integrative Neuroscience, 2023

The likelihood approach for potential role of "GABRG2 (C588T, C315T) gene polymorphisms" on the poor response to carbamazepine therapy in Pakhtun population of Pakistan.

Ullah S et al.

Medicine, 2022

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

Saleem T et al.

Biomed Research International, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment.

Wang S et al.

Clinical and Translational Science, 2021

Association of rs211037 GABRG2 gene polymorphism with susceptibility to idiopathic generalized epilepsy.

Milanovska M et al.

Medicinski Glasnik : Official Publication of the Medical Association of Zenica-doboj Canton, Bosnia and Herzegovina, 2021

Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice.

Li X et al.

Cell Death & Disease, 2021

34050134 (PubMed )
Supplement: 41419_2021_3846_MOESM1_ESM.docx

The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs.

Abou El Ella SS et al.

Seizure, 2018

Association of GABAA Receptor Gene with Epilepsy Syndromes.

Bhat MA et al.

Journal of Molecular Neuroscience : Mn, 2018

GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population.

Butilă AT et al.

Archives of Medical Science : Ams, 2018

Vitamin B6 and homocysteine levels in carbamazepine treated epilepsy of Khyber Pakhtunkhwa.

Shakir S et al.

African Health Sciences, 2017

Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).

Sesarini CV et al.

Psychiatry Research, 2015

The roles of variants in human multidrug resistance (MDR1) gene and their haplotypes on antiepileptic drugs response: a meta-analysis of 57 studies.

Li H et al.

Plos One, 2015

25816099 (PubMed )
Supplement: pone.0122043.s002.doc

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance.

Balan S et al.

Plos One, 2014

24586633 (PubMed )
Supplement: pone.0089253.s003.doc

GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis.

Haerian BS et al.

Seizure, 2013

Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.

Kim YO et al.

Journal of Clinical Neurology (seoul, Korea), 2012

Investigation of the role of the GABRG2 gene variant in migraine.

Chen T et al.

Journal of the Neurological Sciences, 2012

Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.

Ponnala S et al.

Genetic Testing and Molecular Biomarkers, 2012

Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.

Kumari R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population.

Kumari R et al.

Indian Journal of Human Genetics, 2011

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

Shi X et al.

Journal of Human Genetics, 2010

Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population.

Kumari R et al.

Seizure, 2010

Genetic susceptibility to febrile seizures: case-control association studies.

Kira R et al.

Brain & Development, 2010

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.

Fendri-Kriaa N et al.

European Journal of Neurology, 2009

[Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus].

Lin H et al.

Zhonghua Yi Xue Za Zhi, 2008

Screening of GABA(A)-receptor gene mutations in primary dystonia.

Shang H et al.

European Journal of Neurology, 2007

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P et al.

Epilepsia, 2004

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.

Kananura C et al.

Archives of Neurology, 2002

Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.

Dixit AB et al.

Annals of Indian Academy of Neurology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."