Natural Course of <i>IQSEC2</i>-Related Encephalopathy: An Italian National Structured Survey

• Main Authors: Silvia Leoncini (Author), Lidia Boasiako (Author), Diego Lopergolo (Author), Maria Altamura (Author), Caterina Fazzi (Author), Roberto Canitano (Author), Salvatore Grosso (Author), Ilaria Meloni (Author), Margherita Baldassarri (Author), Susanna Croci (Author), Alessandra Renieri (Author), Mario Mastrangelo (Author), Claudio De Felice (Author)
• Format: Book
• Published: MDPI AG, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (<i>IQSEC2</i>) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous...