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?

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

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s