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Year Number of Results
2019 9
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Page 1
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.
Abnormalities in all aspects of GABA metabolism, including GABA synthesis, transport, genes encoding GABA receptors, and GABA inactivation, may lead to epilepsy. GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2 and GABBR2 are genes that encode GABA receptors and are …
Abnormalities in all aspects of GABA metabolism, including GABA synthesis, transport, genes encoding GABA receptors, and GABA inactivation, …
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX. The most frequently implicated genes were KCNT …
Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominan …
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 …
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S. Krenn M, et al. Ann Clin Transl Neurol. 2019 Nov;6(11):2317-2322. doi: 10.1002/acn3.50895. Epub 2019 Sep 30. Ann Clin Transl Neurol. 2019. PMID: 31568673 Free PMC article.
Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. ...Contrary to this observation, we report monozygotic twin sisters with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo …
Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. …
Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.
Zhang T, Chen M, Zhu A, Zhang X, Fang T. Zhang T, et al. Neurol Sci. 2020 Jul;41(7):1913-1917. doi: 10.1007/s10072-020-04284-x. Epub 2020 Feb 15. Neurol Sci. 2020. PMID: 32062735 Free PMC article.
It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel alpha-subunit (NaV1.1), and GABRA1 gene, encoding the alpha1 subunit of the gamma-aminobutyric acid type A (GABA(A)) receptor, while seldom related with SCN9A gene, encoding the vo …
It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel alpha-subunit (NaV1.1), and GABRA1 gene, …
Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment.
Dwivedi R, Kaushik M, Tripathi M, Dada R, Tiwari P. Dwivedi R, et al. Brain Res. 2024 Nov 15;1843:149120. doi: 10.1016/j.brainres.2024.149120. Epub 2024 Jul 18. Brain Res. 2024. PMID: 39032529 Review.
Key studies, such as the discovery of mutations in ion channels (e.g., SCN1A and SCN2A), neurotransmitter receptors (e.g., GABRA1), and synaptic proteins (e.g., SYNGAP1, KCNQ2), have illuminated critical pathways underlying epilepsy susceptibility and pathogenesis. ...
Key studies, such as the discovery of mutations in ion channels (e.g., SCN1A and SCN2A), neurotransmitter receptors (e.g., GABRA1), a …
MicroRNA-7a overexpression in VMH restores the sympathoadrenal response to hypoglycemia.
Agrawal R, Durupt G, Verma D, Montgomery M, Vieira-de Abreu A, Taylor C, Swaminathan S, Fisher SJ. Agrawal R, et al. JCI Insight. 2019 Oct 17;4(20):e130521. doi: 10.1172/jci.insight.130521. JCI Insight. 2019. PMID: 31619588 Free PMC article.
Finally, a direct interaction of microRNA-7a-5p with the 3'-UTR of GABAA receptor alpha1-subunit (Gabra1) gene was demonstrated in a luciferase assay. These findings indicate that (a) the impaired sympathoadrenal response RH induces is associated with changes in VMH microR …
Finally, a direct interaction of microRNA-7a-5p with the 3'-UTR of GABAA receptor alpha1-subunit (Gabra1) gene was demonstrated in a …
A structural look at GABAA receptor mutations linked to epilepsy syndromes.
Hernandez CC, Macdonald RL. Hernandez CC, et al. Brain Res. 2019 Jul 1;1714:234-247. doi: 10.1016/j.brainres.2019.03.004. Epub 2019 Mar 7. Brain Res. 2019. PMID: 30851244 Review.
Understanding the genetic variation in GABA(A) receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through identification of disease-associated variants. . …
Understanding the genetic variation in GABA(A) receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals …
Candidate gene-environment interactions in substance abuse: A systematic review.
Jiang Z, Chen Z, Chen X. Jiang Z, et al. PLoS One. 2023 Oct 31;18(10):e0287446. doi: 10.1371/journal.pone.0287446. eCollection 2023. PLoS One. 2023. PMID: 37906564 Free PMC article.
About 61.5% of studies on the 5-HTTLPR gene, 100% on the MAOA gene, 42.9% on the DRD2 gene, 50% on the DRD4 gene, 50% on the DAT gene, 80% on the CRHR1 gene, 100% on the OPRM1 gene, 100% on the GABRA1 gene, and 50% on the CHRNA gene had a significant gene-environment inter …
About 61.5% of studies on the 5-HTTLPR gene, 100% on the MAOA gene, 42.9% on the DRD2 gene, 50% on the DRD4 gene, 50% on the DAT gene, 80% o …
38 results