New genes for focal epilepsies with speech and language disorders.

Details

Serval ID
serval:BIB_A7AA6B4C06EE
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
New genes for focal epilepsies with speech and language disorders.
Journal
Current Neurology and Neuroscience Reports
Author(s)
Turner S.J., Morgan A.T., Perez E.R., Scheffer I.E.
ISSN
1534-6293 (Electronic)
ISSN-L
1528-4042
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
15
Number
6
Pages
554
Language
english
Notes
Publication types: Journal Article Publication Status: ppublishDocument Type: Review
Abstract
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
Create date
05/06/2015 16:12
Last modification date
20/08/2019 15:12
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