Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1
We describe the developmental trajectory of an adolescent with overlapping features of Rett and Tourette syndromes, carrying <i>MECP2</i> and <i>GABBR1</i> variants. Future studies are essential to better characterize the genotype-phenotype correlates and optimize therapeutic strategies, to tackle the unique needs of the patient and her family.
Authors
- Francesco Demaria
- Maria Grazia Logrieco
- Silvia Guerrera (ORCID: https://orcid.org/0000-0003-3449-5630)
- Giovanni Valeri
- Guido R. Zanni
- Victor M. Napoli
- Stefano Vicari (ORCID: https://orcid.org/0000-0002-5395-2262)
- Gianluca Piccolo (ORCID: https://orcid.org/0000-0003-2815-6288)
- Sara Passarini
- Alessia Cianfa
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Foggia (IT)
- University of Rome Tor Vergata (IT)
- Agostino Gemelli University Polyclinic (IT)
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-06-19
- DOI
- https://doi.org/10.3389/fped.2025.1617479
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute