Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes (<i>TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1&...

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Bibliographic Details
Main Authors: Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti, Daisy Sproviero, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo, Valentina De Giorgis, Micaela De Simone, Jessica Galli, Roberta La Piana, Tullio Messana, Isabella Moroni, Nardo Nardocci, Celeste Panteghini, Cecilia Parazzini, Anna Pichiecchio, Antonella Pini, Federica Ricci, Veronica Saletti, Elisabetta Salvatici, Filippo M. Santorelli, Stefano Sartori, Francesca Tinelli, Carla Uggetti, Edvige Veneselli, Giovanna Zorzi, Barbara Garavaglia, Elisa Fazzi, Simona Orcesi, Cristina Cereda
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Journal of Clinical Medicine
Subjects:
Aicardi-Goutières Syndrome
Next Generation Sequencing
Interferon signature
Online Access:https://www.mdpi.com/2077-0383/8/5/750

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https://www.mdpi.com/2077-0383/8/5/750

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