This paper by Bahi-Buisson et al. describes a family with Myoclonic Absence Epilepsy with Photosensitivity and the hyperinsulinism/hyperammonemia (HI/HA) syndrome and mutations in the glutamate dehydrogenase (GDH) gene.
Is this IGE-like phenotype a metabolic disorder rather than a channelopathy?
Ingo
This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.
Please quote this blog (APA format) as
Helbig, I. GDH mutations in a Myoclonic absence Epilepsy. Retrieved [enter date], from http://www.euroepinomics.wordpress.com
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
