KCNT2-related disorders: phenotypes, functional and pharmacological properties.
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DOI: 10.1002/ana.26662
Abstract: OBJECTIVE Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro functional and pharmacological properties of… read more here.
Keywords: properties kcnt2; pharmacological properties; kcnt2 related; functional pharmacological ... See more keywords