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New Genes for Focal Epilepsies with Speech and Language Disorders

  • Genetics (V Bonifati, Section Editor)
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An Erratum to this article was published on 23 June 2015

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.

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Conflict of Interest

Eliane Roulet Perez declares that she has no conflict of interest.

Samantha J. Turner has received grants from the National Health and Medical Research Council (postgraduate scholarship) and the Speech Pathology Australia (Nadia Verrall Memorial Research Grant).

Angela T. Morgan has received grants from the National Health and Medical Research Council (Career Development Award) and the Australian Research Council (Discovery Project).

Ingrid E. Scheffer has received grants from the NHMRC (CI, Program Grant 2011–2015), the NIH (PI, Centres without Walls funding “Epi4K” 2011–2015) and the ARC (Discovery Grant 2012–2014).

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Department of Paediatrics, The University of Melbourne, The Royal Children’s Hospital, Parkville, Australia

    Samantha J. Turner, Angela T. Morgan & Ingrid E. Scheffer

  2. Language and Literacy Group, Murdoch Childrens Research Institute, Parkville, Australia

    Samantha J. Turner & Angela T. Morgan

  3. Speech Pathology Department, The Royal Children’s Hospital, Parkville, Australia

    Angela T. Morgan

  4. Paediatric Neurology and Neurorehabilitation Unit, Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    Eliane Roulet Perez

  5. Florey Institute of Neuroscience and Mental Health, Melbourne, Australia

    Ingrid E. Scheffer

  6. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia

    Samantha J. Turner & Ingrid E. Scheffer

Authors
  1. Samantha J. Turner
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  2. Angela T. Morgan
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  3. Eliane Roulet Perez
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  4. Ingrid E. Scheffer
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Corresponding author

Correspondence to Ingrid E. Scheffer.

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This article is part of the Topical Collection on Genetics

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Turner, S.J., Morgan, A.T., Perez, E.R. et al. New Genes for Focal Epilepsies with Speech and Language Disorders. Curr Neurol Neurosci Rep 15, 35 (2015). https://doi.org/10.1007/s11910-015-0554-0

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  • DOI: https://doi.org/10.1007/s11910-015-0554-0

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