Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

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 subtype 1 (ANE1). We provide clinical, genetic, and neuroradiological evidence that biallelic variant...

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Veröffentlicht in:	Genetics in medicine 2023-09, Vol.25 (9), p.100897-100897, Article 100897
Hauptverfasser:	Schoch, Kelly, Kranz, Peter G., Markert, M. Louise, Arbogast, Thomas, Muraresku, Colleen, Adams, David R., Alvarez, Raquel L., Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Brown, Gabrielle, Butte, Manish J., Byrd, William E., Carrasquillo, Olveen, Cassini, Thomas, Chanprasert, Sirisak, Chinn, Ivan, Clark, Gary D., Coggins, Matthew, Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Fisher, Paul G., Fogel, Brent L., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Hahn, Sihoun, Hamid, Rizwan, Introne, Wendy, Jamal, Fariha, Jean-Marie, Orpa, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, LeBlanc, Kimberly, Lee, Brendan H., Loo, Sandra K., Loscalzo, Joseph, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marom, Ronit, Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, Merritt, J. Lawrence, Might, Matthew, Mulvihill, John, Newman, John H., Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Scott, C. Ron, Seto, Elaine, Sinsheimer, Janet S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tan, Queenie K.-G., Telischi, Fred, Tifft, Cynthia J., Urv, Tiina K., Wahl, Colleen E., Wang, Lee-kai, Wangler, Michael F., Wheeler, Matthew T., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Tyndall, Amanda V., Woodward, Kristine E., Wright, Nicola A.M., Davis, Erica E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acute demyelinating encephalopathy Acute Febrile Encephalopathy Acute necrotizing encephalopathy Brain Diseases - genetics Carrier Proteins Child Humans Inflammasome Inflammasomes Leukoencephalitis, Acute Hemorrhagic - diagnosis Leukoencephalitis, Acute Hemorrhagic - genetics RANBP2 Ribonucleases RNH1 Transcription Factors
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