Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy
Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero, Nerea Moreno‐Ruiz, C. Arenas, Fernando Francisco Martínez Calvo, Salvador Ibáñez‐Micó, José Luis Peña Segura, José Miguel Ramos‐Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Victor Miguel Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández‐Jaén, , Marina Mitjans
This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.
Neurobiology of Disease · Mar 17, 2026Peer-reviewedGenetic & Genomic Medicine