Articles with "adgrv1 variants" as a keyword



Photo from wikipedia

ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities

Sign Up to like & get
recommendations!
Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.864074

Abstract: Objective ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations are associated with audio-visual disorders. Although previous experimental studies suggested that ADGRV1 variants were associated with epilepsy, clinical evidence… read more here.

Keywords: audio visual; visual disorders; epilepsy antecedent; missense variants ... See more keywords