GDH mutations in a Myoclonic Absence Epilepsy

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?


This 2009 blog post has been transferred to the EuroEPINOMICS blog from

Please quote this blog (APA format) as

Helbig, I. GDH mutations in a Myoclonic absence Epilepsy. Retrieved [enter date], from

Ingo Helbig

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

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