Ask about this productRelated genes to: GABRB1 Blocking Peptide
- Gene:
- GABRB1 NIH gene
- Name:
- gamma-aminobutyric acid type A receptor beta1 subunit
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 4p12
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-02
- Date modifiied:
- 2016-02-04
Related products to: GABRB1 Blocking Peptide
Related articles to: GABRB1 Blocking Peptide
- Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it. We performed a systematic review to identify the genetic diagnoses in which AASE has been described, and examined the available clinical, EEG, treatment and outcome details. The protocol was registered in PROSPERO and reporting followed PRISMA guidelines. We searched public databases for combinations of the terms: "atypical absence status epilepticus," "status epilepticus," "non convulsive status epilepticus," and "gene," "genetics," "epileptic encephalopathy," "developmental and epileptic encephalopathy," "DEE." Only original articles in English were included. We identified 34 publications reporting 97 patients with AASE and an underlying genetic condition. Most patients had a chromosomal abnormality (88%), in particular ring chromosome 20 (53% of the total patients) and Angelman syndrome caused by a 15q11-q13 deletion (31%). Seven epilepsy genes (UBE3A, CNKSR2, TRPM3, KCNH2, NEXMIF, SYNGAP1, GABRB1) were found in which a clinical and electrographic picture consistent with AASE was described. Therefore, in the context of a possible genetic diagnosis, AASE has been reported mainly in chromosomal disorders. However, this condition is likely underrecognized and underreported, particularly in monogenic epilepsies. Therefore, a deeper phenotyping and a more standardized use of classification terms would be necessary both for clinical and research purposes. PLAIN LANGUAGE SUMMARY: We reviewed the scientific literature to find out in which genetic conditions a rare EEG and clinical pattern, called atypical absence status epilepticus, has been described. We found that this pattern is mainly reported in patients with changes in chromosome structure, such as ring chromosome 20 and Angelman syndrome. Among single-gene (monogenic) forms of epilepsy, it has been described in association with seven genes (UBE3A, CNKSR2, TRPM3, KCNH2, NEXMIF, SYNGAP1, GABRB1). When clinicians suspect a genetic cause of epilepsy and this finding is present, they should consider checking also for chromosomal changes. - Source: PubMed
Publication date: 2026/05/11
Cioclu Maria CristinaGiovannini GiadaMeletti Stefano - Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2 and is frequently associated with scoliosis; however, the molecular mechanisms linking MeCP2 dysfunction to this phenotype remain poorly understood. In this study, we identify LBX1, a gene implicated in adolescent idiopathic scoliosis, as a downstream target of MeCP2 and investigate its regulatory role in neuronal gene expression. Chromatin immunoprecipitation (ChIP) analysis demonstrated that MeCP2 binds to the promoter region of LBX1, which contains a CT-rich and highly methylated sequence, providing a favorable context for MeCP2 binding. Consistently, CRISPR/Cas9-mediated disruption of MECP2 in A172 cells resulted in a marked reduction of LBX1 expression, whereas expression of the antisense transcript LBX1-AS remained unchanged, indicating gene-specific regulation. These findings support a role for MeCP2 as a transcriptional activator of LBX1 in this context. Given the established role of LBX1 in specifying GABAergic and glutamatergic neuronal identities, we performed targeted gene expression profiling using a GABA and glutamate-related PCR array. Several neuronal genes were differentially expressed in MeCP2-deficient cells, and GABRB1 and P2RX7 were identified as LBX1-dependent downstream targets, as their expression levels were restored by ectopic expression of LBX1. Together, these findings reveal a previously unrecognized MeCP2-LBX1 regulatory axis and suggest that its disruption may contribute to altered neuronal signaling. This pathway provides a potential molecular link between MeCP2 dysfunction and scoliosis in Rett syndrome. - Source: PubMed
Publication date: 2026/04/25
Horike Shin-IchiMeguro-Horike Makiko - Gamma-aminobutyric acid type A (GABA) receptors are ligand-gated anion channels, encoded by nineteen subunit genes in mammals. Recent cryo-electron microscopy studies of native human receptors from brain cortex revealed that β1 subunits contribute to diverse assemblies, including non-canonical arrangements of subunits. β subunits contribute to both GABA binding sites and allosteric sites targeted by general anesthetics. However, studying β1-containing receptors remains hampered by the absence of selective ligands. Here, we present novel pyrazoloquinolinone (PQ) ligands that act as functionally selective allosteric modulators and propose a structural hypothesis for their binding site. Two-microelectrode voltage clamp recordings in Xenopus laevis oocytes expressing recombinant GABA receptors were used to generate concentration-response curves, asses functional β1-selectivity and probe the impact of a mutation in the putative binding site. Four PQ derivatives significantly enhanced GABA-induced currents at α1β1 receptors but showed markedly reduced efficacy at α1β3 receptors, demonstrating functional β1-selectivity. Incorporation of the γ2 subunit reduced or abolished this modulation, and mutational analysis identified β1R41 as key determinant of activity. The emerging structure-activity relationships define a distinct interaction profile and provide quantitative evidence for β1-selectivity. Together, our results pave the way for further design of binding selective ligands. Future applications of β1-selective compounds include their use as research tools for example in autoradiography or functional mapping of receptor populations, and perspectives as diagnostic and therapeutic agents in a variety of neuropsychiatric conditions, as the subunit encoding GABRB1 gene has been implicated in epileptic encephalopathy and is under investigation for a potential role in addictive disorders. - Source: PubMed
Publication date: 2026/04/18
Schnalzer DominikHaller CelinaDoppler Angelika MGashi LauretaAsai MartynaBampali KonstantinaKoniuszewski FilipSchaar BenjaminSchnürch MichaelMihovilovic Marko DKhom SophiaErnst Margot - Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social deficits, repetitive behaviors, and heightened anxiety. Despite extensive research, effective interventions targeting core symptoms remain limited. Gami-Guibitang (GBT), a traditional herbal formula, has been clinically prescribed for anxiety-related symptoms and cognitive complaints, yet its effects on ASD-associated behavioral and molecular abnormalities have not been fully elucidated. - Source: PubMed
Publication date: 2026/02/25
Yoon Ji HyeJung Duk JinKim MikyungKim Young-NamShim MinjiLee Sung YounShin CheolIm SangeunMaeng SunghoShin Jihwan - Age-related hearing loss (ARHL) disrupts ascending auditory inputs, impairing auditory signal transmission, triggering cortical hyperexcitability, and increasing the risk of age-related cognitive decline. In early aging, multisession epidural direct current stimulation (DCS) of the auditory cortex (AC) preserves auditory thresholds and prevents cortical hyperexcitability in Wistar rats. Here, we hypothesized that multisession DCS could halt transcriptional dysregulation in the AC at the earliest stages of aging. We have characterized age-related transcriptional changes in the AC to assess DCS-mediated effects by RNA-seq. At 18.13 months, non-stimulated, aged rats (NES) showed 194 differentially expressed genes (DEGs) in relation to young controls (YG), with enrichment in pathways associated with GABAergic, glutamatergic, and dopaminergic synapses, long-term potentiation/depression, inflammaging, autophagy, apoptosis and neurodegeneration. The upregulated genes included Gabrb1, Grin2b, Rac3c, Tnr, and Ndst1, suggesting compensatory hyperactivity, excitatory/inhibitory imbalance, and stiffening of perineuronal nets (PNN) around parvalbumin (PV) interneurons. Electrically stimulated (ES) rats showed 86 DEGs in relation to YG, with no significant enrichment in aging-related pathways. By contrast, NES vs ES showed 1393 DEGs, with strong enrichment in aging-related pathways. Also, many of the 121 common DEGs across comparisons, which are upregulated in NES and downregulated in ES, are related to neurotransmission (Gabrb1, Grin2b), synaptic scaffolding (Dlg2, Prkca), trophic signaling (Ntrk2, Igf1r) and PNN (Tnr, Ndst1). Based on these findings, multisession DCS curbs maladaptive genomic reprogramming in the aged AC most likely by preserving excitatory/inhibitory balance and maintaining PNN integrity, thereby protecting the AC from ARHL and cognitive vulnerability. - Source: PubMed
Publication date: 2026/02/19
Fernández Del Campo Inés SCebrián-León AlejandroHernández-Del Caño CarlosVarela-Andrés NataliaPlaza IgnacioDeogracias RubénMerchán Miguel A