EFHC1: A gene for juvenile myoclonic epilepsy

抄録

We originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and also in other types of idiopathic generalized epilepsy. We recently generated Efhc1-deficient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol. These results further support and confirm our proposal that EFHC1 is the gene for JME.