학술논문
Biallelic variants in Ribonuclease Inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute necrotizing encephalopathy
Document Type
Article
Author
Shashi, V.; Schoch, K.; Ganetzky, R.; Kranz, P.G.; Sondheimer, N.; Markert, M.L.; Cope, H.; Sadeghpour, A.; Roehrs, P.; Arbogast, T.; Muraresku, C.; Tyndall, A.V.; Esser, M.J.; Woodward, K.E.; Au, B.P.Y.; Parboosingh, J.S.; Lamont, R.E.; Bernier, F.P.; Wright, N.A.M.; Benseler, S.M.; Parsons, S.J.; El-Dairi, M.; Smith, E.C.; Valdez, P.; Tennison, M.; Innes, A.M.; Davis, E.E.
Source
Genetics in Medicine; 20230101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN Binding Protein 2 (RANBP2) associated Acute Necrotizing Encephalopathy sub-type 1 (ANE1). We provide clinical, genetic and neuroradiological evidence that biallelic variants in ribonuclease inhibitor (RNH1)confer susceptibility to a distinctive ANE subtype.