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Article

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

1 Dec 2020

Abstract excerpt

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. Methods Patients with de novo KCNQ2 pathogenic variants were identified from Italy, Denmark, and Belgium. Atomic resolution...

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PMID: 33659638
DOI: 10.1212/nxg.0000000000000528

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