Moleculargenetic Diagnostics
Epilepsies

PD Dr. med. Angela Abicht, Prof. Dr. Bernd Rautenstrauß, Prof. Dr. med. Elke Holinski-Feder
Infantile Epilepsy: Dravet Syndrome, SFM1 - SCN1A
Infantile Epilepsy with Mental Retardation (only girls) - PCDH19
Rett Syndrome with infantile epilepsy - CDKL5
Rett Syndrome, congenital variant - FOXG1
Infantile Epilepsy: Ohtahara Syndrome - STXBP1
X-linked mental retardation type Christianson - SLC9A6
GLUT1-Deficiency Syndrome - GLUT1
Generalised Epilepsy With Febrile Seizures Plus, GEFS+ - SCN1A, SCN1B, SCN2A, GABRD, GABRG2
Benign Familial Neonatal Convulsions, BFNC - KCNQ2, KCNQ3

