Annesi(Ferdinanda),Gambardella(Antonio),Mi... Epilepsia 2007-10-10

Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize....

Pinto(Dalila),Louwaars(Sandrien),Westland(... Epilepsia 2006-12-12

...EFHC1 in our set of 6p11-12-linked families.,We screened all coding and regulatory regions of EFHC1 by direct sequencing...

Turnbull(Julie),Lohi(Hannes),Kearney(Jenni... Hum Mol Genet 2006-05-23

...EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present betw...

King(Stephen M) Cell Motil Cytoskeleton 2006-06-30

...EFHC1. The Efhc1 protein consists of three DM10 domains and a C-terminal region containing a potential Ca2+ -binding mot...

Norberg(Anna),Forsgren(Lars),Holmberg(Dan)... Neurosci Lett 2006-04-25

...EFHC1 was recently identified as the disease gene for juvenile myoclonic epilepsy. Migraine and epilepsy has been sugges...

Gu(Wenli),Sander(Thomas),Heils(Armin),Lenz... Epilepsy Res 2006-01-17

...EFHC1 gene on 6p12-p11 was previously described as the first susceptibility gene for juvenile myoclonic epilepsy (JME). ...

Wang(Xu),Wang(Tao),Yuan(Ming-xiong),Liu(Mu... Zhongguo Yi Xue Ke Xue Yuan... 2006-04-28

...EFHC1. These studies make genetic testing possible in some patients, and further characterization of the identified epil...

Suzuki(Toshimitsu),Delgado-Escueta(Antonio... Neurosci Lett 2006-10-24

...EFHC1 as the EJM1 gene. Here, we describe detailed physical and transcriptome maps of the 3.5cM EJM1 region, and detaile...

Ma(Shaochun),Blair(Marcia A),Abou-Khalil(B... Epilepsy Res 2006-11-28

...EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME. We have investigated the contribution...

de Nijs(Laurence),Lakaye(Bernard),Coumans(... Exp Cell Res 2006-10-19

...EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play...