Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification

Autor: Kejia Zhang, Katharina Löhner, Henny H. Lemmink, Maartje Boon, Jenna M. Lentini, Naduni de Silva, Dragony Fu

Publikováno v: HGG Advances, Vol 6, Iss 1, Pp 100377- (2025)

Summary: 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 e

Externí odkaz: https://doaj.org/article/79945894278e49acb60477609c774c5e

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification.

Autor: Zhang K; Center for RNA Biology, Department of Biology, University of Rochester, Rochester, NY 14627, USA., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Lemmink HH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Boon M; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Lentini JM; Center for RNA Biology, Department of Biology, University of Rochester, Rochester, NY 14627, USA., de Silva N; Center for RNA Biology, Department of Biology, University of Rochester, Rochester, NY 14627, USA., Fu D; Center for RNA Biology, Department of Biology, University of Rochester, Rochester, NY 14627, USA. Electronic address: dragonyfu@rochester.edu.

Publikováno v: HGG advances [HGG Adv] 2024 Oct 31; Vol. 6 (1), pp. 100377. Date of Electronic Publication: 2024 Oct 31.