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ANGRIMAN , Marco

Last name: ANGRIMAN

First name: Marco

2020 (v1)

Publication

Metadata-only

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

Malerba, Federica Alberini, Giulio Balagura, Ganna

ObjectiveEarly 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.MethodsPatients with de novo KCNQ2 pathogenic variants...

Uploaded on: April 14, 2023