Using experimental models to provide insights into mechanism of genetic generalised epilepsy
- Author:
Kazuhiro Yamakawa
- Publication Type:Journal Article
- From:Neurology Asia
2013;18(s1):9-11
- CountryMalaysia
- Language:English
-
Abstract:
EFHC1 gene mutations have been described in patients with juvenile myoclonic epilepsy (JME) and
other types of idiopathic generalized epilepsy. We generated Efhc1-defi cient mouse and found that the
mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol,
further supported and confi rmed that EFHC1 is the gene for JME. Myoclonin1 protein encoded by
EFHC1 is well expressed in prenatal choroid plexus and postnatal ependymal cell cilia. In consistent
with this, the Efhc1-defi cient mouse showed slowed beating frequency of ependymal cilia and
enlarged ventricles. Recent report also described that myoclonin1 was expressed in neurons and their
mitotic spindles and midbody, but our re-investigation suggested that those signals in neurons were
non-specific.
- Full text:P020150706591014545877.pdf
