Article
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
Journal of medical genetics - 1 Jul 2021
Maroofian Reza, Sedmík Jiří, Mazaheri Neda, Scala Marcello, Zaki Maha S, Keegan Liam P, Azizimalamiri Reza, Issa Mahmoud, Shariati Gholamreza, Sedaghat Alireza, Beetz Christian, Bauer Peter, Galehdari Hamid, O'Connell Mary A, Houlden Henry
Abstract excerpt
BACKGROUND: Adenosine-to-inosine RNA editing is a co-transcriptional/post-transcriptional modification of double-stranded RNA, catalysed by one of two active adenosine deaminases acting on RNA (ADARs), ADAR1 and ADAR2. ADARB1 encodes the enzyme ADAR2 that is highly expressed in the brain and essential to modulate the function of glutamate and serotonin receptors. Impaired ADAR2 editing causes early onset...
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