Article

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

2023-04-06

Abstract excerpt

<title>Abstract</title> While loss-of-function (LoF) variants in <italic>KCNQ2</italic> are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. We functionally characterized two novel presumed GoF <italic>KCNQ2</italic> variants (Y141N and G239S), and described the associated phenotypic features. Further...

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Literature Corpus work: d1f4a007-9fb6-5a97-82bb-bfffe3c94d17
DOI: 10.21203/rs.3.rs-2710358/v1

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