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Article

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

Journal of neuropathology and experimental neurology - 1 Dec 2011

Pernhorst Katharina, Raabe Anna, Niehusmann Pitt, van Loo Karen M J, Grote Alexander, Hoffmann Per, Cichon Sven, Sander Thomas, Schoch Susanne, Becker Albert J

Abstract excerpt

The functional consequences of single nucleotide polymorphisms associated with episodic brain disorders such as epilepsy and depression are unclear. Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphisms rs1883415 (ALDH5A1; succinic semialdehyde dehydrogenase) and rs4906902 (GABRB3; GABAA β3), both of which are present in the 5' regulatory region of genes involved...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Epilepsy, Temporal Lobe
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Share to Polymorphism, Single Nucleotide
Share to Promoter Regions, Genetic
Share to Receptors, GABA

Source

Identifiers

PMID: 22082659
DOI: 10.1097/NEN.0b013e318238b9af

Genes

GABRB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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