Article
Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness.
Epilepsia - 1 Jan 2021
Tsortouktzidis Despina, Schulz Herbert, Hamed Motaz, Vatter Hartmut, Surges Rainer, Schoch Susanne, Sander Thomas, Becker Albert J, van Loo Karen M J
Abstract excerpt
Increasing evidence indicates the pathogenetic relevance of regulatory genomic motifs for variability in the manifestation of brain disorders. In this context, cis-regulatory effects of single nucleotide polymorphisms (SNPs) on gene expression can contribute to changing transcript levels of excitability-relevant molecules and episodic seizure manifestation in epilepsy. Biopsy specimens of patients undergoing...
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