Articles with "cntnap2 r777g" as a keyword



Photo by little_plant from unsplash

A Novel CNTNAP2 Mutation Results in Abnormal Neuronal E/I Balance

Sign Up to like & get
recommendations!
Published in 2021 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2021.712773

Abstract: CNTNAP2 (coding for protein Caspr2), a member of the neurexin family, plays an important role in the balance of excitatory and inhibitory post-synaptic currents (E/I balance). Here, we describe a novel pathogenic missense mutation in… read more here.

Keywords: mutation; synaptic currents; cntnap2 r777g; balance ... See more keywords