Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
By widening the functional spectrum of biallelic variants affecting the <i>NALCN</i> gene, this article broadens the IHPRF1 syndrome's genotype-phenotype correlation and gives new insight into its pathogenic mechanism, diagnosis, and clinical management.
Authors
- Michela Semeraro (ORCID: https://orcid.org/0000-0002-6750-0486)
- Emanuele Agolini (ORCID: https://orcid.org/0000-0001-6543-6225)
- Annalisa Deodati (ORCID: https://orcid.org/0000-0001-8636-382X)
- Jorge Saraiva (ORCID: https://orcid.org/0000-0002-7232-3509)
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Satheesh Krishna (ORCID: https://orcid.org/0000-0001-6603-7621)
- Lorenzo Sinibaldi (ORCID: https://orcid.org/0000-0002-1371-936X)
- Filippo Maria Panfili (ORCID: https://orcid.org/0000-0002-0610-325X)
- Michaela Veronika Gonfiantini
- Andrea Bartuli (ORCID: https://orcid.org/0000-0001-9765-7460)
- Serena Caggiano
- Carlotta Ginevra Nucci (ORCID: https://orcid.org/0000-0002-9016-7503)
- Viviana Caputo (ORCID: https://orcid.org/0000-0001-6753-1234)
- Fabiana Cortellessa
- Pedro Almeida (ORCID: https://orcid.org/0000-0001-6790-8687)
- Nicole Colantoni
- Paola Sabrina Buonuomo (ORCID: https://orcid.org/0000-0002-7944-8400)
- Elisabetta Verrillo (ORCID: https://orcid.org/0000-0001-6469-7423)
- Cristiano Rizzo (ORCID: https://orcid.org/0000-0002-5954-9749)
- Marina Macchiaiolo (ORCID: https://orcid.org/0000-0001-7409-8299)
- Serpil Alkan (ORCID: https://orcid.org/0000-0003-1677-0272)
- Tommaso Mazza (ORCID: https://orcid.org/0000-0003-0434-8533)
- Davide Vecchio (ORCID: https://orcid.org/0000-0003-2907-3206)
- Francesco Petrizzelli (ORCID: https://orcid.org/0000-0002-9478-7929)
- Dario Cocciadiferro (ORCID: https://orcid.org/0000-0002-8583-3866)
- Nicola Cotugno (ORCID: https://orcid.org/0000-0002-7748-1581)
- Diego Martinelli (ORCID: https://orcid.org/0000-0002-9324-2871)
- Carlo Dionisi‐Vici (ORCID: https://orcid.org/0000-0002-0007-3379)
- Niccolò Liorni (ORCID: https://orcid.org/0000-0003-0472-5693)
- Joaquim P. Marques de Sá
- Ippolita Rana
Institutions
- University of Rome Tor Vergata (IT)
- Casa Sollievo della Sofferenza (IT)
- Krishna Institute of Medical Sciences (IN)
- Bambino Gesù Children's Hospital (IT)
- Centre Hospitalier Universitaire de Liège (BE)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Coimbra (PT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-12-11
- DOI
- https://doi.org/10.3389/fgene.2024.1477940
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Ministero della Salute