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