Kevin J. Black edited Etiology.md  over 8 years ago

Commit id: 598477308e39f4f7bf4bc60b6ca6d3596ed343e8

deletions | additions      

       

|**Title** | **Comment** |  |:----------|:------------|  | Astrocyte metabolism in TS \citep{25735483} | A collaborative genetic study shows association of TS with genes expressed in astrocytes, especially with 33 genes involved in glycolosis and glutamate metabolism. The results not only narrow the hunt for genes that may cause TS, they encourage future electrophysiological, imaging and pharmacological studies in a new direction. |   | NMDA receptor gene polymorphism in Han Chinese \citep{26321256} | This relatively small sample provided preliminary evidence for linkage of TS and the gene for the NMDA receptor 2B subunit. |   | AADAC gene deletion \citep{26444075} | This large collaborative group studied _AADAC_, the gene encoding arylacetamide deacetylase, in which microdeletions had been identified in a previous, smaller copy number variation study. "In the Danish cohort, we identified eight patients with overlapping deletions of _AADAC_. Investigation of the additional five countries showed a significant association between the _AADAC_ deletion and GTS, and a final meta-analysis confirmed the significant association (\(p = 4.4 \times 10^{−4}\); odds ratio = 1.9; 95% confidence interval = 1.33–2.71). Furthermore, RNA in situ hybridization and reverse transcription-polymerase chain reaction studies revealed that _AADAC_ is expressed in several brain regions previously implicated in GTS pathology." |  | NMDA receptor gene polymorphism in Han Chinese \citep{26321256} | This relatively small sample provided preliminary evidence for linkage of TS and the gene for the NMDA receptor 2B subunit. |