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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: barzasi m. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.
Costa C, Bellingacci L, Canonichesi J, Imperatore V, Taddei AA, Zafra-Puerta L, Iglesias-Cabeza N, Prontera P, Mancini A, Di Filippo M, Tozzi A, Martinello K, Barzasi M, Gardoni F, Sánchez MP, Serratosa JM, Parnetti L, Sciaccaluga M. Costa C, et al. Among authors: barzasi m. Epilepsia. 2026 Mar;67(3):1449-1468. doi: 10.1111/epi.70024. Epub 2025 Dec 17. Epilepsia. 2026. PMID: 41408964 Free PMC article.