A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
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Functional MAPT haplotypes: bridging the gap between genotype and neuropathology15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disordersAltered Organization of GABA(A) Receptor mRNA Expression in the Depressed Suicide BrainGenetic analysis of GABRB3 as a candidate gene of autism spectrum disordersAssociation analysis of GABRB3 promoter variants with heroin dependenceMutations affecting GABAergic signaling in seizures and epilepsy.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients.Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.GABA(A) Receptor β3 Subunit Expression Regulates Tonic Current in Developing Striatopallidal Medium Spiny Neurons.Altered GABA signaling in early life epilepsies.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.The state of the art in the genetic analysis of the epilepsiesEffects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.Maternal transmission of a rare GABRB3 signal peptide variant is associated with autismMutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.Channelopathies in idiopathic epilepsy.A polygenic heterogeneity model for common epilepsies with complex genetics.Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures.Mutations in GABAA receptor subunits associated with genetic epilepsies.The molecular biology of genetic-based epilepsies.Tapping the Brakes: Cellular and Synaptic Mechanisms that Regulate Thalamic Oscillations.GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.A common VWF exon 28 haplotype in the Turkish population.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.The GABRB3 Polymorphism and its Association with Schizophrenia.Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.A novel variant in GABRB2 associated with intellectual disability and epilepsy.A mutation in GABRB3 associated with Dravet syndrome.Toward the Language Oscillogenome
P2860
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P2860
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
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2006年學術文章
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name
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@en
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@nl
type
label
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@en
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@nl
prefLabel
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@en
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@nl
P2093
P2860
P356
P1476
A GABRB3 promoter haplotype as ...... airs transcriptional activity.
@en
P2093
Karoline Fuchs
Lydia Urak
Martha Feucht
Nahid Fathi
P2860
P304
P356
10.1093/HMG/DDL174
P50
P577
2006-07-11T00:00:00Z