Pedigree of a Palestinian family with JME and absences, JAE and ELMA. This family raises the question whether we are looking at a recessive disease or a dominant disease with incomplete penetrance. The phenotypes are within the spectrum we would expect for GLUT1 or 16p13.11.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter 

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.