New genes for focal epilepsies with speech and language disorders

Journal article

Turner, Samantha J., Morgan, Angela T., Perez, Eliane Roulet and Scheffer, Ingrid E.. (2015). New genes for focal epilepsies with speech and language disorders. Current Neurology and Neuroscience Reports. 15(6), p. Article 35. https://doi.org/10.1007/s11910-015-0554-0
AuthorsTurner, Samantha J., Morgan, Angela T., Perez, Eliane Roulet and Scheffer, Ingrid E.
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.

Year2015
JournalCurrent Neurology and Neuroscience Reports
Journal citation15 (6), p. Article 35
PublisherSpringer
ISSN1528-4042
Digital Object Identifier (DOI)https://doi.org/10.1007/s11910-015-0554-0
PubMed ID25921602
Scopus EID2-s2.0-84928781991
Page range1-13
Publisher's version
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All rights reserved
File Access Level
Controlled
Output statusPublished
Publication dates
Online29 Apr 2015
Publication process dates
Deposited01 Jul 2025
Additional information

© Springer Science+Business Media New York 2015.

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