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Published in 2023 at "Annals of neurology"
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…
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Keywords:
properties kcnt2;
pharmacological properties;
kcnt2 related;
functional pharmacological ... See more keywords