GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Détails

ID Serval
serval:BIB_CB0C5F2DB781
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
Périodique
Nat Genet
Auteur⸱e⸱s
Lesca G., Rudolf G., Bruneau N., Lozovaya N., Labalme A., Boutry-Kryza N., Salmi M., Tsintsadze T., Addis L., Motte J., Wright S., Tsintsadze V., Michel A., Doummar D., Lascelles K., Strug L., Waters P., de Bellescize J., Vrielynck P., de Saint Martin A., Ville D., Ryvlin P., Arzimanoglou A., Hirsch E., Vincent A., Pal D., Burnashev N., Sanlaville D., Szepetowski P.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
09/2013
Volume
45
Numéro
9
Pages
1061-6
Langue
anglais
Notes
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
eng
Wellcome Trust/United Kingdom
Research Support, Non-U.S. Gov't
Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11.
Résumé
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 alpha2 subunit, GluN2A). The identification of GRIN2A as a major gene for these epileptic encephalopathies provides crucial insights into the underlying pathophysiology.
Mots-clé
Amino Acid Substitution, Cell Line, Electroencephalography, Epilepsies, Partial/*genetics, Female, Gene Expression, Genotype, Humans, Landau-Kleffner Syndrome/*genetics, Male, *Mutation, Pedigree, Phenotype, Receptors, N-Methyl-D-Aspartate/*genetics
Pubmed
Création de la notice
29/11/2018 12:36
Dernière modification de la notice
20/08/2019 15:45
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