This gene continues to be a mystery. An epilepsy gene not expressed in neurons with no obvious link to ion channels.
EFHC1 is one of the few genes found in human epilepsies that has been replicated in several studies. The predominant phenotype of patients carrying EFHC1 variant is Juvenile Myoclonic Epilepy, where also familial inheritance is observed. However, EFHC1 mutations have also been found in cases of other IGE subtypes and cryptogenic Temporal Lobe Epilepsy (TLE).
Suzuki et al. now report on their findings in EFHC1-deficient mice. The animals develop spontaneous myoclonus and are susceptible to seizures. Interestingly, the authors find that EFHC1 is not expressed in neuron, but only in the choroid plexus and postnatal ependymal cilia. In addition, GABAergic neurons are not affected.
The question remains how EFHC1 can lead to an idiopathic epilepsy phenotype that is assumed to be a disease of ion channels. Or maybe not?
This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.
Please quote this blog (APA format) as
Helbig, I. EFHC1-deficient mice develop myoclonic seizures. Retrieved [enter date], from http://www.euroepinomics.wordpress.com