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?

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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

In this paper in Annals, the author report on nine patients with folinic-acid responsive seizures with mutations in antiquitin (ALDH7A1), which was previously only associated with pyridoxine-dependent seizures.

Folinic acid responsive seizures are a cause of neonatal epilepsy and characteristic peaks of unidentified compounds are observed on chromatography of the cerebrospinal fluid that sets this condition apart from other neonatal epilepsies. Now this condition is found to be allelic with pyridoxine-dependent seizures with a number of implications for diagnosis and treatment.

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This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. Antiquitin mutations in folinic-acid responsive seizures. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

In this review, Saul Mullen and Ingrid Scheffer review the phenotypes and animal models for epilepsies associated with SCN1A mutations. This review will finally coin the term interneuronopathy for the various diseases with SCN1A mutations and is an additional reference for Severe Infantile Multifocal Epilepsy (SIMFE) beside the 2007 Harkin paper, which is freely available online.

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This 2009 blog post has been transferred to the EuroEPINOMICS blog fromwww.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. Review: SCN1A in men and mice. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

The first paper of 2009 for this blog is a publication from our own consortium.  We describe the first microdeletion that predisposes to Idiopathic Generalised Epilepsy that is found in 1% of patients with IGE.  The same microdeletion had been identified previously in various neurodevelopmental disorders including schizophrenia, autism and intellectual disability. http://1.usa.gov/npuzk4

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Please quote this blog (APA format) as

Helbig, I. 15q13.3 microdeletions in IGE. Retrieved [enter date], from http://www.euroepinomics.wordpress.com