Article
Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.
Journal of neurology - 26 Aug 2026
Meossi Camilla, De Falco Alessandro, Rinaldi Deianira, Pagano Stefano, Tessa Alessandra, Trovato Rosanna, Pezzoli Laura, Iascone Maria Rosaria, Ceccarini Caterina, Freri Elena, Bartolini Emanuele, D'Arrigo Stefano, Calderoni Sara, Canosa Antonio, Gallone Salvatore, Verduci Elvira, Milani Donatella, Santorelli Filippo Maria
Abstract excerpt
BACKGROUND: Although pathogenic variants in MECP2 are classically associated with Rett syndrome (RTT), increasing evidence suggests that they can underlie a broader spectrum of neurological phenotypes. Clinical manifestations may vary according to sex, variant type, residual protein function, and pattern of X-chromosome inactivation. METHODS: We describe five unrelated individuals carrying pathogenic MECP2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.