Article
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Epilepsia - 1 Sept 2024
Cuccurullo Claudia, Cerulli Irelli Emanuele, Ugga Lorenzo, Riva Antonella, D'Amico Alessandra, Cabet Sara, Lesca Gaetan, Bilo Leonilda, Zara Federico, Iliescu Catrinel, Barca Diana, Fung France, Helbig Katherine, Ortiz-Gonzalez Xilma, Schelhaas Helenius J, Willemsen Marjolein H, van der Linden Inge, Canafoglia Laura, Courage Carolina, Gommaraschi Samuele, Gonzalez-Alegre Pedro, Bardakjian Tanya, Syrbe Steffen, Schuler Elisabeth, Lemke Johannes R, Vari Stella, Roende Gitte, Bak Mads, Huq Mahbulul, Powis Zoe, Johannesen Katrine M, Hammer Trine Bjørg, Møller Rikke S, Rabin Rachel, Pappas John, Zupanc Mary L, Zadeh Neda, Cohen Julie, Naidu Sakkubai, Krey Ilona, Saneto Russell, Thies Jenny, Licchetta Laura, Tinuper Paolo, Bisulli Francesca, Minardi Raffaella, Bayat Allan, Villeneuve Nathalie, Molinari Florence, Salimi Dafsari Hormos, Moller Birk, Le Roux Marie, Houdayer Clara, Vecchi Marilena, Mammi Isabella, Fiorini Elena, Proietti Jacopo, Ferri Sofia, Cantalupo Gaetano, Battaglia Domenica Immacolata, Gambardella Maria Luigia, Contaldo Ilaria, Brogna Claudia, Trivisano Marina, De Dominicis Angela, Bova Stefania Maria, Gardella Elena, Striano Pasquale, Coppola Antonietta
Abstract excerpt
OBJECTIVE: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our...
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