Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

OBJECTIVE: Early identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo KCNQ2 pathogenic variants to dissect genotype-phenotype correlations. METHOD...

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Publicat a:Neurol Genet
Autors principals: Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M., Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria R., Johannesen, Kathrine M., Møller, Rikke S., Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, Striano, Pasquale
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803337/
https://ncbi.nlm.nih.gov/pubmed/33659638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000528
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