Article
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Jan 2024
Bayat Allan, Iavarone Stefano, Miceli Francesco, Jakobsen Anne V, Johannesen Katrine M, Nikanorova Marina, Ploski Rafal, Szymanska Krystyna, Flamini Robert, Cooper Edward C, Weckhuysen Sarah, Taglialatela Maurizio, Møller Rikke S
Abstract excerpt
While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. In the present work, the clinical features of three patients carrying a de novo KCNQ2 Y141N (n = 1) or G239S variant (n = 2) respectively, are described. All three patients had a mild global...
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