Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.

Reza MaroofianJiří SedmíkNeda MazaheriMarcello ScalaMaha S ZakiLiam P KeeganReza AzizimalamiriMahmoud Y IssaGholamreza ShariatiAlireza SedaghatChristian BeetzPeter BauerHamid GalehdariMary A O'ConnellHenry Houlden

Published in: Journal of medical genetics (2020)

In conclusion, these data support the pathogenic role of biallelic ADARB1 variants as the cause of a distinctive form of DEE, reinforcing the importance of RNA editing in brain function and development.

Keyphrases

copy number
intellectual disability
early onset
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electronic health record
resting state
white matter
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autism spectrum disorder
functional connectivity
multiple sclerosis
gene expression
genome wide
brain injury
blood brain barrier