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Article

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy

11 Jul 2023

Abstract excerpt

Background Developmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE. This study aimed to examine the relationships between genotype and phenotype in KCNQ2-related DEE. Methods In total, 12 patients were enrolled in this study for genetic...

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PMID: 37497102
DOI: 10.3389/fnmol.2023.1205265

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