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
Authors | Turner, Samantha J., Morgan, Angela T., Perez, Eliane Roulet and Scheffer, Ingrid E. |
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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. |
Year | 2015 |
Journal | Current Neurology and Neuroscience Reports |
Journal citation | 15 (6), p. Article 35 |
Publisher | Springer |
ISSN | 1528-4042 |
Digital Object Identifier (DOI) | https://doi.org/10.1007/s11910-015-0554-0 |
PubMed ID | 25921602 |
Scopus EID | 2-s2.0-84928781991 |
Page range | 1-13 |
Publisher's version | License All rights reserved File Access Level Controlled |
Output status | Published |
Publication dates | |
Online | 29 Apr 2015 |
Publication process dates | |
Deposited | 01 Jul 2025 |
Additional information | © Springer Science+Business Media New York 2015. |
https://acuresearchbank.acu.edu.au/item/92009/new-genes-for-focal-epilepsies-with-speech-and-language-disorders
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