A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.

ABSTRACT:

Background

Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders. Often, it is difficult to identify the physiological defects and the appropriate treatments.

Results

We have isolated and cultured primary cells from the skin of a patient with combined epilepsy and autism syndrome. A mutation in the potassium channel protein Kv10.2 was identified. We have characterised the alteration of the mutant channel and found that it causes loss of function (LOF). Primary cells from the skin displayed a very striking growth defect and increased differentiation. In vitro treatment with various carbonic anhy

SUBMITTER: Galan-Vidal J 

PROVIDER: S-EPMC9446776 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature