Article
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
Neurobiology of disease - 1 May 2026
Aranda Selena, Ribeiro-Constante Juliana, Tristán-Noguero Alba, Moreno-Ruiz Nerea, Arenas Concepción, Martínez Calvo Fernando Francisco, Ibáñez-Micó Salvador, Peña Segura José Luis, Ramos-Fernández José Miguel, Moyano Chicano María Del Carmen, Camino León Rafael, Soto-Insuga Víctor, González-Alguacil Elena, Valera Dávila Carlos, Fernández-Jaén Alberto, Plans Laura, Camacho Ana, Visa-Reñé Nuria, Martín-Tamayo Blázquez María Del Pilar, Paredes-Carmona Fernando, Marti-Carrera Itxaso, Ginot-Julià Guillem, Hernández-Fabián Aránzazu, Tomàs Daví Meritxell, Casadesús Sànchez Mercè, Cuesta Herraiz Laura, Fuentes Pita Patricia, Bermejo González Teresa, O'Callaghan Mar, Iglesias Santa Polonia Federico Felipe, Cazorla María Rosario, Ferrando Lucas María Teresa, González-Meneses Antonio, Sala-Coromina Júlia, Macaya Alfons, Lasa-Aranzasti Amaia, Cueto-González Anna Mª, Párraga Francisca Valera, Plana Jaume Campistol, Serrano Mercedes, Alonso Xenia, Valenzuela Palafoll Maria Irene, Monteagudo Eines, Alonso-Colmenero Itziar, Sans Capdevila Oscar, Casals Ferran, Cormand Bru, García-Cazorla Ángeles, Bayés Àlex, Mitjans Marina
Abstract excerpt
Synaptic Ras GTPase-Activating Protein 1 (SynGAP) is a key regulator of synaptic plasticity, neurodevelopment, and neuronal circuit function. It is encoded by the SYNGAP1 gene, in which de novo dominant pathogenic variants are a major cause of SYNGAP1 Encephalopathy, a rare neurodevelopmental disorder characterised by intellectual disability, epilepsy, autistic traits, and other clinical manifestations. While...
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