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@article{Srivastava:2017:10.1101/gr.210740.116,
author = {Srivastava, PK and Bagnati, M and Delahaye-Duriez, A and KO, J-H and Rotival, M and Langley, SR and Shkura, K and Mazzuferi, M and Danis, B and Eyll, JV and Foerch, P and Behmoaras, J and Kaminski, RM and Petretto, E and Johnson, MR},
doi = {10.1101/gr.210740.116},
journal = {Genome Research},
pages = {440--450},
title = {Genome-wide analysis of differential RNA editing in epilepsy},
url = {http://dx.doi.org/10.1101/gr.210740.116},
volume = {27},
year = {2017}
}

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TY  - JOUR
AB  - The recoding of genetic information through RNA editing contributes to proteomic diversity, but the extent and significance of RNA editing in disease is poorly understood. In particular, few studies have investigated the relationship between RNA editing and disease at a genome-wide level. Here, we developed a framework for the genome-wide detection of RNA sites that are differentially edited in disease. Using RNA-sequencing data from 100 hippocampi from mice with epilepsy (pilocarpine–temporal lobe epilepsy model) and 100 healthy control hippocampi, we identified 256 RNA sites (overlapping with 87 genes) that were significantly differentially edited between epileptic cases and controls. The degree of differential RNA editing in epileptic mice correlated with frequency of seizures, and the set of genes differentially RNA-edited between case and control mice were enriched for functional terms highly relevant to epilepsy, including “neuron projection” and “seizures.” Genes with differential RNA editing were preferentially enriched for genes with a genetic association to epilepsy. Indeed, we found that they are significantly enriched for genes that harbor nonsynonymous de novo mutations in patients with epileptic encephalopathy and for common susceptibility variants associated with generalized epilepsy. These analyses reveal a functional convergence between genes that are differentially RNA-edited in acquired symptomatic epilepsy and those that contribute risk for genetic epilepsy. Taken together, our results suggest a potential role for RNA editing in the epileptic hippocampus in the occurrence and severity of epileptic seizures.
AU  - Srivastava,PK
AU  - Bagnati,M
AU  - Delahaye-Duriez,A
AU  - KO,J-H
AU  - Rotival,M
AU  - Langley,SR
AU  - Shkura,K
AU  - Mazzuferi,M
AU  - Danis,B
AU  - Eyll,JV
AU  - Foerch,P
AU  - Behmoaras,J
AU  - Kaminski,RM
AU  - Petretto,E
AU  - Johnson,MR
DO  - 10.1101/gr.210740.116
EP  - 450
PY  - 2017///
SN  - 1549-5469
SP  - 440
TI  - Genome-wide analysis of differential RNA editing in epilepsy
T2  - Genome Research
UR  - http://dx.doi.org/10.1101/gr.210740.116
UR  - http://hdl.handle.net/10044/1/43920
VL  - 27
ER  -

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