• SyncroPatch 384/768PE

    APC with highest throughput on the market
  • SyncroPatch 384/768PE

    384 cells in parallel => upgradable to 768
  • SyncroPatch 384/768PE

    True HTS AND Gigaohm seals
  • SyncroPatch 384/768PE

    True internal perfusion with continuous data acquisition
  • SyncroPatch 384/768PE

    Assay flexibility via high tech

2017 - Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

icon sp96  SyncroPatch 768PE publication in Neurology Genetics (2017)

Authors: 
Calhoun, J.D., Vanoye, C.G., Kok, F., George, A.L., Kearney, J.A.

Journal: 
Neurology Genetics (2017) 3(6):e198


Abstract: 

Objective: To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG.
Methods: Whole-exome sequencing identified the KCNB1 variant c.595A.T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine whether this variant affected protein expression, trafficking, and channel functional properties.
Results: Biochemical characterization of the variant suggested normal protein expression and trafficking. Functional characterization revealed biophysical channel defects in assembled homotetrameric and heterotetrameric channels.
Conclusions: The identification of the KCNB1 variant c.595A.T (p.Ile199Phe) in a neurodevelopmental disorder that included epilepsy with centrotemporal spikes expands the phenotypic spectrum of epilepsies associated with KCNB1 variants. The KCNB1-I199F variant exhibited partial loss of function relative to the wild-type channel. This defect is arguably less severe than previously reported KCNB1 variants, suggesting the possibility that the degree of KCNB1 protein dysfunction may influence disease severity.


Download here

Back to Overview

Cookies make it easier for us to provide you with our services. With the usage of our services you permit us to use cookies.
More information Ok