EFHC1 in juvenile myoclonic epilepsy

Mutations in the EFHC1 gene have been found in several patients suffering from juvenile myoclonic epilepsy (JME). Researchers at GIGA have shown that EFHC1 loss of function disrupts cell division and induces apoptosis in cell culture.

Using ex vivo electroporation, they observed a dramatic decrease of radial migration because both division of cortical progenitors and locomotion of postmitotic neurons are impaired in the absence of the protein. Therefore, they propose that abnormal neuronal migration during development could lead to abnormal brain circuitry that, in turn, will produce JME.

Their goal is now to study the effect of EFHC1 and of its mutated forms on neocortical development and, subsequently, to study the functional consequences of the migratory deficits induced by EFHC1 loss of function.

Interested in these projects? Drop us an email [info@b2h.be]. We are looking forward collaborating with you!

Related articles

New University Certificate for clinical trials

The Clinical Sciences Department of the Medicine Faculty of the University of Liège organizes from the academic year 2018-2019 a University Certificate in clinical trials. More information is available in this folder

Read more
New University Certificate for clinical trials

A new gene responsible for juvenile myoclonic epilepsy?

In collaboration with a team at the University of California at Los Angeles (UCLA), researchers from GIGA-Neurosciences have discovered a new gene responsible for a seizure syndrome called juvenile myoclonic epilepsy (JME). This discovery was made as part of an international consortium that studies genetic abnormalities responsible for epileptic diseases. It is being published this week in

Read more
A new gene responsible for juvenile myoclonic epilepsy?

New technologies available at the GIGA Imaging platform

The LIGHTSHEET MICROSCOPY can deliver optical sections, 3D reconstructions and timelapse movies of whole sample volumes at subcellular resolutions. The fast scan speeds and low phototoxicity of the lightsheet allow to record the development of fluorescent transgenic animals over long time periods, such as zebrafish embryos. Alternatively 3D reconstructions of fixed whole organs or whole embryos,

Read more
New technologies available at the GIGA Imaging platform

We use cookies to give you the best online experience. By agreeing you accept the use of cookies in accordance with our cookie policy.

Privacy Settings saved!
Privacy Settings

When you visit any web site, it may store or retrieve information on your browser, mostly in the form of cookies. Control your personal Cookie Services here.

We track anonymized user information to improve our website.
  • _ga 2 year
  • _gid 24 hours
  • _gat 1 minute
  • AMP_TOKEN 30 seconds to 1 year
  • _gac_ 90 days

Decline all Services
Accept all Services