Mechanisms underlying the EEG biomarker in Dup15q syndrome

201976 citationsJournal Articlegold Open Access

Authors

Joel Frohlich · Roche (Switzerland)

Lawrence T. Reiter · University of Tennessee Health Science Center

Vidya Saravanapandian · University of California, Los Angeles

Charlotte DiStefano · University of California, Los Angeles

Scott Huberty · University of California, Los Angeles

Carly Hyde · University of California, Los Angeles

Stormy J. Chamberlain

Abstract

Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by <i>UBE3A</i> dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Molecular Autism

Volume 10, Issue 1, pp. 29-29

DOI: 10.1186/s13229-019-0280-6

Field-Weighted Citation Impact: 6.63