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.
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants / Malerba, F., Alberini, G., Balagura, G., Marchese, F., Amadori, E., Riva, A., Vari, M.S., Gennaro, E., Madia, F., Salpietro, V., Angriman, M., Giordano, L., Accorsi, P., Trivisano, M., Specchio, N., Russo, A., Gobbi, G., Raviglione, F., Pisano, T., Marini, C., et al.. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 6:6(2020), p. e528. [10.1212/NXG.0000000000000528]
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Vari, Maria Stella;Coppola, Antonietta;Miceli, Francesco;Taglialatela, Maurizio;Striano, Pasquale
2020
Abstract
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.| File | Dimensione | Formato | |
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