Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization

The YWHAG gene (OMIM∗ 605356) resides on Chr 7q11.23 and encodes the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (14-3-3γ), which is highly expressed in the brain. This protein regulates neuronal migration and its abnormal activity may cause morphological defects in the developing cortex. The scientific interest in the YWHAG gene firstly started in 1999, when the clinical influence was presumed due to the YWHAG location at the most telomeric end of the deletion region founded in Williams–Beuren syndrome (WBS) [1].

0