Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy.
Epilepsy Course and Developmental Trajectories in STXBP1-DEE / G. Balagura, J. Xian, A. Riva, F. Marchese, B. Ben Zeev, L. Rios, D. Sirsi, P. Accorsi, E. Amadori, G. Astrea, S. Baldassari, F. Beccaria, A. Boni, M. Budetta, G. Cantalupo, G. Capovilla, E. Cesaroni, V. Chiesa, A. Coppola, R. Dilena, R. Faggioli, A. Ferrari, E. Fiorini, F. Madia, E. Gennaro, T. Giacomini, L. Giordano, M. Iacomino, S. Lattanzi, C. Marini, M.M. Mancardi, M. Mastrangelo, T. Messana, C. Minetti, L. Nobili, A. Papa, A. Parmeggiani, T. Pisano, A. Russo, V. Salpietro, S. Savasta, M. Scala, A. Accogli, B. Scelsa, P. Scudieri, A. Spalice, N. Specchio, M. Trivisano, M. Tzadok, M. Valeriani, M.S. Vari, A. Verrotti, F. Vigevano, A. Vignoli, R. Toonen, F. Zara, I. Helbig, P. Striano. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 8:3(2022), pp. e676.1-e676.14. [10.1212/NXG.0000000000000676]
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
V. Chiesa;R. Dilena;E. Gennaro;A. Russo;A. Vignoli;
2022
Abstract
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy.
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