New genes for focal epilepsies with speech and language disorders.

Détails

ID Serval
serval:BIB_A7AA6B4C06EE
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
New genes for focal epilepsies with speech and language disorders.
Périodique
Current Neurology and Neuroscience Reports
Auteur⸱e⸱s
Turner S.J., Morgan A.T., Perez E.R., Scheffer I.E.
ISSN
1534-6293 (Electronic)
ISSN-L
1528-4042
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
15
Numéro
6
Pages
554
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublishDocument Type: Review
Résumé
The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20 % of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.
Pubmed
Web of science
Création de la notice
05/06/2015 17:12
Dernière modification de la notice
20/08/2019 16:12
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