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
Balagura, Ganna;Riva, Antonella;Marchese, Francesca;Amadori, Elisabetta;Baldassari, Simona;Cantalupo, Gaetano;Dilena, Robertino;Giacomini, Thea;Iacomino, Michele;Mancardi, Maria Margherita;Minetti, Carlo;Nobili, Lino;Salpietro, Vincenzo;Scala, Marcello;Accogli, Andrea;Scudieri, Paolo;Spalice, Alberto;Vari, Maria Stella;Verrotti, Alberto;Zara, Federico;Striano, Pasquale
2022-01-01
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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