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GABRB3, Epilepsy, and Neurodevelopment.
Tanaka M, DeLorey TM, Delgado-Escueta A, Olsen RW. Tanaka M, et al. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. PMID: 22787634 Free Books & Documents. Review.
GABRB3 is expressed at lower levels in adult brain, except in hippocampus where it remains high. ...GABRB3 is highly associated with epilepsy and when a deficiency of UBE3A is also present, more severe symptoms result. ...
GABRB3 is expressed at lower levels in adult brain, except in hippocampus where it remains high. ...GABRB3 is highly associate …
Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.
Babij R, Ferrer C, Donatelle A, Wacks S, Buch AM, Niemeyer JE, Ma H, Duan ZRS, Fetcho RN, Che A, Otsuka T, Schwartz TH, Huang BS, Liston C, De Marco García NV. Babij R, et al. Neuron. 2023 Jan 18;111(2):256-274.e10. doi: 10.1016/j.neuron.2022.10.037. Epub 2022 Nov 28. Neuron. 2023. PMID: 36446382 Free PMC article.
In addition, Gabrb3 deletion leads to increased cortical response to tactile stimulation at neonatal stages. Using human transcriptomics and neuroimaging datasets from ASD subjects, we show that the spatial distribution of GABRB3 expression correlates with atypical …
In addition, Gabrb3 deletion leads to increased cortical response to tactile stimulation at neonatal stages. Using human transcriptom …
Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
METHODS: We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABA(A) -receptor subunit variants (GABRA1, GABRB2, GABRB3, and GABRG2) through a national French collaboration using the EPIGENE network and compared these data to the …
METHODS: We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABA(A) -receptor subunit variants …
A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R. Pavone P, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1461. doi: 10.1002/mgg3.1461. Epub 2020 Sep 18. Mol Genet Genomic Med. 2020. PMID: 32945607 Free PMC article. Review.
CONCLUSION: A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. ...A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is …
CONCLUSION: A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is prop …
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y, Zeng Q, Cheng M, Niu X, Xiangwei W, Gong P, Li W, Ma J, Zhang X, Yang X, Yang Z, Sun D, Zhou S, Liao J, Jiang Y, Zhang Y. Yang Y, et al. J Neurol. 2022 May;269(5):2649-2665. doi: 10.1007/s00415-021-10834-w. Epub 2021 Oct 26. J Neurol. 2022. PMID: 34698933
Through the collaboration of multicenter in China, we analyzed the genotype-phenotype correlation and antiepileptic therapy of 26 patients with GABRB3-related epilepsy. RESULTS: Thirteen GABRB3 variants were novel, and 25 were de novo. ...Valproate, levetiracetam an …
Through the collaboration of multicenter in China, we analyzed the genotype-phenotype correlation and antiepileptic therapy of 26 patients w …
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
In this study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations. ...RESULTS: We characterized 71 individuals with GABRB3 variants, including 22 novel subjects, expre …
In this study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate …
Gabrb3 endothelial cell-specific knockout mice display abnormal blood flow, hypertension, and behavioral dysfunction.
Agrud A, Subburaju S, Goel P, Ren J, Kumar AS, Caldarone BJ, Dai W, Chavez J, Fukumura D, Jain RK, Kloner RA, Vasudevan A. Agrud A, et al. Sci Rep. 2022 Mar 22;12(1):4922. doi: 10.1038/s41598-022-08806-9. Sci Rep. 2022. PMID: 35318369 Free PMC article.
There is a reduction in vessel densities and increased vessel morphology in the Gabrb3(ECKO) telencephalon that persists in the adult neocortex. Gabrb3(ECKO) mice show behavioral deficits such as impaired reciprocal social interactions, communication deficits, heigh …
There is a reduction in vessel densities and increased vessel morphology in the Gabrb3(ECKO) telencephalon that persists in the adult …
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
A likelihood analysis showed a significant excess of de novo mutations in the 4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with …
A likelihood analysis showed a significant excess of de novo mutations in the 4,000 genes that are the most intolerant to functional genetic …
Genetic variations in GABA metabolism and epilepsy.
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC. Feng Y, et al. Seizure. 2022 Oct;101:22-29. doi: 10.1016/j.seizure.2022.07.007. Epub 2022 Jul 15. Seizure. 2022. PMID: 35850019 Free article. Review.
GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2 and GABBR2 are genes that encode GABA receptors and are commonly associated with epilepsy. ...
GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2 and GABBR2 are genes that encode GABA receptors and are commonly associated wi …
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M. Absalom NL, et al. Brain Commun. 2020 Oct 1;2(2):fcaa162. doi: 10.1093/braincomms/fcaa162. eCollection 2020. Brain Commun. 2020. PMID: 33585817 Free PMC article.
A GABRB3 variant that responds well to vigabatrin involves a truncation variant (p.Arg194*) resulting in a clear loss-of-function. ...We introduced the GABRB3 p.Glu77Lys and p.Thr287Ile variants into a concatenated synaptic and extrasynaptic gamma-aminobutyric acid …
A GABRB3 variant that responds well to vigabatrin involves a truncation variant (p.Arg194*) resulting in a clear loss-of-function. .. …
470 results