Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy.

ABSTRACT: The Kv3.2 subfamily of voltage activated potassium channels encoded by the KCNC2 gene is abundantly expressed in neurons that fire trains of fast action potentials that are a major source of cortical inhibition. Gain-of-function (GOF) de novo pathogenic variants in KCNC1 and KCNC2, encoding Kv3.1 and Kv3.2 respectively, cause several types of epilepsy including developmental and epileptic encephalopathy (DEE). Fluoxetine (Prozac) is a known inhibitor of the Kv3.1 current and was reported to improve seizure control in a single patient with a KCNC1 GOF variant. Here, we describe fluoxetine treatment of two siblings with a de novo KCNC2 V473A variant associated with DEE, which resulted in improved seizure control, ability to wean antiepileptic medicat

SUBMITTER: Li P 

PROVIDER: S-EPMC11774886 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature