Varaico: Literature-Extracted Genetic Variants

Gene:GABBR1
Variant:p.G489S
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GABBR1

NM_001470.4:p.G489S

Associated Papers

Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.

Sun S et al.

International Journal of Molecular Sciences, 2023

36835631 (PubMed )
Supplement: ijms-24-04223-s001.zip › Supplementary_files › Supplementary_Table_S1.pdf

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Thakran S et al.

International Journal of Molecular Sciences, 2020

The effect of single nucleotide polymorphisms of STAT3 on epilepsy in children.

Li YZ et al.

European Review for Medical and Pharmacological Sciences, 2020

Association of dopaminergic/GABAergic genes with attention deficit hyperactivity disorder in children.

Wang GX et al.

Molecular Medicine Reports, 2012

Association between vitamin D receptor gene polymorphisms and bone mineral density in Chinese women.

Li Y et al.

Molecular Biology Reports, 2012

GABBR1 gene polymorphism(G1465A)isassociated with temporal lobe epilepsy.

Xi B et al.

Epilepsy Research, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population.

Wang X et al.

Epilepsy Research, 2008

GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence.

Kauffman MA et al.

Seizure, 2008

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

Bovo G et al.

Neuroscience Letters, 2008

Frequency of distribution of leptin receptor gene polymorphism in obstructive sleep apnea patients.

Popko K et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2007

Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?

Mishra BK et al.

Molecular Pain, 2007

Systematic study of association of four GABAergic genes: glutamic acid decarboxylase 1 gene, glutamic acid decarboxylase 2 gene, GABA(B) receptor 1 gene and GABA(A) receptor subunit beta2 gene, with schizophrenia using a universal DNA microarray.

Zhao X et al.

Schizophrenia Research, 2007

Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome.

Bayazit YA et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2007

Various pharmacogenetic aspects of antiepileptic drug therapy: a review.

Mann MW et al.

Cns Drugs, 2007

Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.

Stogmann E et al.

Epilepsia, 2006

Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy.

Ren L et al.

Seizure, 2005

Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?

Cavalleri GL et al.

Brain : a Journal of Neurology, 2005

GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy.

Salzmann A et al.

Epilepsia, 2005

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

Tan NC et al.

Epilepsia, 2005

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

Ma S et al.

Bmc Medical Genetics, 2005

Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.

Bisulli F et al.

Brain : a Journal of Neurology, 2004

Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant.

Walz R et al.

Neurology, 2003

Prodynorphin gene promoter polymorphism and temporal lobe epilepsy.

Gambardella A et al.

Epilepsia, 2003

A Gene Polymorphism Associated with Temporal Lobe Epilepsy?

French J

Epilepsy Currents, 2003

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.

Gambardella A et al.

Neurology, 2003

Association of EEG coherence and an exonic GABA(B)R1 gene polymorphism.

Winterer G et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003

Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients.

Winterer G et al.

Behavior Genetics, 2003

GABA, gamma-hydroxybutyric acid, and neurological disease.

Wong CG et al.

Annals of Neurology, 2003

Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia.

Imai K et al.

American Journal of Medical Genetics, 2002

Childhood absence epilepsy: genes, channels, neurons and networks.

Crunelli V et al.

Nature Reviews. Neuroscience, 2002

Human GABA(B) receptor 1 gene: eight novel sequence variants.

Hisama FM et al.

Human Mutation, 2001

Exonic variants of the GABA(B) receptor gene and panic disorder.

Sand PG et al.

Psychiatric Genetics, 2000

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy.

Sander T et al.

American Journal of Medical Genetics, 1999

Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence.

Sander T et al.

Psychiatric Genetics, 1999

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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."