Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.

ABSTRACT:

Objective

Mutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant, which occurs in the voltage-sensing domain of the channel, causes a highly penetrant and specific form of progressive myoclonus epilepsy with severe ataxia, designated myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). KCNC1 encodes the voltage-gated potassium channel K_V 3.1, a channel that is important for enabling high-frequency firing in interneurons, raising the possibility that MEAK is associated with reduced interneuronal function.

Methods

To determine how this variant triggers MEAK, we expressed K_V 3.1b^R320H in cortical interneurons in vitro and investigated the eff

SUBMITTER: Carpenter JC 

PROVIDER: S-EPMC8436768 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature