Dr. Benjamin Enav, MD University of California, Los Angeles, California
2006
Electrogastrography in Children with Angelman Syndrome
$30,000
This study evaluated individuals with AS to learn more about contractility of the stomach as measured by surface electrical recordings from the abdominal area. The study provides insight into how the stomach contracts before, during and after ingestion of meals and the varied gastrointestinal problems known to exist in AS. One of the findings demonstrated increased periods of diminished or absent stomach contractions (termed “arrhythmias”) when compared to controls. This diminished activity may be fundamentally related to the problem of neuronal imprinting of UBE3A not only in the brain but in other neurons in the peripheral nervous system.