Two GEFS+ families with inherited microduplications at 17q12. The phenotypes in the families range from simple Febrile Seizures (FS) to severe epilepsy with intellectual disability. In families like this, some of the aspects of the phenotypic range may be revealed that might otherwise go unnoticed. (wt = wildtype, i.e. not microduplication, GTCS generalized tonic-clonic seizures)
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
