Concepedia

Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S. Zaki, Liam P. Keegan, Reza Azizi Malamiri, Mahmoud Y. Issa, Gholamreza Shariati, Alireza Sedaghat,

Journal of Medical Genetics · 2020 · 29 citations · 26 references

DOIFull text

Open access

Abstract

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

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