E-resources
Peer reviewed
-
Lesca, Gaetan; Rudolf, Gabrielle; Bruneau, Nadine; Lozovaya, Natalia; Labalme, Audrey; Boutry-Kryza, Nadia; Salmi, Manal; Tsintsadze, Timur; Addis, Laura; Motte, Jacques; Wright, Sukhvir; Tsintsadze, Vera; Michel, Anne; Doummar, Diane; Lascelles, Karine; Strug, Lisa; Waters, Patrick; de Bellescize, Julitta; Vrielynck, Pascal; de Saint Martin, Anne; Ville, Dorothee; Ryvlin, Philippe; Arzimanoglou, Alexis; Hirsch, Edouard; Vincent, Angela; Pal, Deb; Burnashev, Nail; Sanlaville, Damien; Szepetowski, Pierre
Nature genetics, 09/2013, Volume: 45, Issue: 9Journal Article
Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. They show electroclinical overlap with rolandic epilepsy (the most frequent childhood focal epilepsy) and can be viewed as different clinical expressions of a single pathological entity situated at the crossroads of epileptic, speech, language, cognitive and behavioral disorders. Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). The identification of GRIN2A as a major gene for these epileptic encephalopathies provides crucial insights into the underlying pathophysiology.
Author
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.