Article

Epileptic encephalopathy linked to a DALRD3 missense variant impaired in tRNA modification function

2024-05-21

Abstract excerpt

Epileptic encephalopathies are severe epilepsy syndromes characterized by early onset and progressive cerebral dysfunction. A nonsense variant in the DALR Anticodon Binding Domain Containing 3 ( DALRD3 ) gene has been implicated in epileptic encephalopathy but no other disease-associated variants in DALRD3 have been described. In human cells, the DALRD3 protein forms a complex with the METTL2 methyltransferase to...

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Literature Corpus work: 66da6557-19d0-5e1a-a712-e51c6f1259c9
DOI: 10.1101/2024.05.21.24307194

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