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
License
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.

Permalink -

https://acuresearchbank.acu.edu.au/item/92009/new-genes-for-focal-epilepsies-with-speech-and-language-disorders

Log in to edit

Restricted files

Publisher's version

  • 5
    total views
  • 0
    total downloads
  • 5
    views this month
  • 0
    downloads this month
These values are for the period from 19th October 2020, when this repository was created.

Export as

Related outputs

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
Morgan, Angela, Scerri, T.S., Vogel, Adam P., Reid, Christopher A., Quach, Mara, Jackson, Victoria, McKenzie, Chaseley, Burrows, Emma L., Bennett, Mark F., Turner, Samantha, Reilly, Sheena, Horton, Sarah E., Block, Susan, Kefalianos, Elaina, Frigerio-Domingues, Carlos and et. al.. (2023). Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain. 146(12), pp. 5086-5097. https://doi.org/10.1093/brain/awad314
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Morison, Lottie D., Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy G. Y, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A, Amor, David J., ... Morgan, Angela T.. (2023). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of Medical Genetics. 60(6), pp. 597-607. https://doi.org/10.1136/jmg-2022-108734
Atypical development of Broca's area in a large family with inherited stuttering
Thompson-Lake, Daisy G. Y, Scerri, Thomas S., Block, Susan, Turner, Samantha J., Reilly, Sheena, Kefalianos, Elaina, Bonthrone, Alexandra F., Helbig, Ingo, Bahlo, Melanie, Scheffer, Ingrid E., Hildebrand, Michael S., Liégeois, Frédérique J. and Morgan, Angela T.. (2022). Atypical development of Broca's area in a large family with inherited stuttering. Brain. 145(3), pp. 1177-1188. https://doi.org/10.1093/brain/awab364
Severe childhood speech disorder : Gene discovery highlights transcriptional dysregulation
Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Van Reyk, Olivia, Coleman, Matthew, Braden, Ruth O., Turner, Samantha, Rigbye, Kristin A., Boys, Amber, Barton, Sarah, Webster, Richard, Fahey, Michael, Saunders, Kerryn, Parry-Fielder, Bronwyn, Paxton, Georgia, Hayman, Michael, Coman, David, Goel, Himanshu, Baxter, Anne, ... Morgan, Angela T.. (2020). Severe childhood speech disorder : Gene discovery highlights transcriptional dysregulation. Neurology. 94(20), pp. e2148-e2167. https://doi.org/10.1212/WNL.0000000000009441
Speech in children with cerebral palsy
Mei, Cristina, Reilly, Sheena, Bickerton, Molly, Mensah, Fiona, Turner, Samantha, Kumaranayagam, Dhanooshini, Pennington, Lindsay, Reddihough, Dinah and Morgan, Angela T.. (2020). Speech in children with cerebral palsy. Developmental Medicine and Child Neurology. 62(12), pp. 1374-1382. https://doi.org/10.1111/dmcn.14592
Looking to the future : Speech, language, and academic outcomes in an adolescent with childhood apraxia of speech
Turner, Samantha J., Vogel, Adam P., Parry-Fielder, Bronwyn, Campbell, Rhonda, Scheffer, Ingrid E. and Morgan, Angela T.. (2019). Looking to the future : Speech, language, and academic outcomes in an adolescent with childhood apraxia of speech. Folia Phoniatrica et Logopaedica. 71(5-6), pp. 203-215. https://doi.org/10.1159/000500554
Dorsal language stream anomalies in an inherited speech disorder
Liégeois, Frédérique J., Turner, Samantha J., Mayes, Angela, Bonthrone, Alexandra F., Boys, Amber, Smith, Libby, Parry-Fielder, Bronwyn, Mandelstam, Simone, Spencer-Smith, Megan, Bahlo, Melanie, Scerri, Tom S., Hildebrand, Michael S., Scheffer, Ingrid E., Connelly, Alan and Morgan, Angela T.. (2019). Dorsal language stream anomalies in an inherited speech disorder. Brain: a journal of neurology. 142(4), pp. 966-977. https://doi.org/10.1093/brain/awz018
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Corbett, Mark A., Turner, Samantha J., Gardner, Alison, Silver, Jeremy, Stankovich, Jim, Leventer, Richard J., Derry, Christopher P., Carroll, Renee, Ha, Thuong, Scheffer, Ingrid E., Bahlo, Melanie, Jackson, Graeme D., Mackey, David A., Berkovic, Samuel F. and Gecz, Jozef. (2017). Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics. 60(8), pp. 437-443. https://doi.org/10.1016/j.ejmg.2017.06.002
Dysarthria and broader motor speech deficits in Dravet syndrome
Turner, Samantha J., Brown, Amy, Arpone, Marta, Anderson, Vicki, Morgan, Angela T. and Scheffer, Ingrid E.. (2017). Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology. 88(8), pp. 743-749. https://doi.org/10.1212/WNL.0000000000003635
Early neuroimaging markers of FOXP2 intragenic deletion
Liégeois, Frédérique J., Hildebrand, Michael S., Bonthrone, Alexandra, Turner, Samantha J., Scheffer, Ingrid E., Bahlo, Melanie, Connelly, Alan and Morgan, Angela T.. (2016). Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports. 6, p. Article: 35192. https://doi.org/10.1038/srep35192
GRIN2A : An aptly named gene for speech dysfunction
Turner, Samantha, Mayes, Angela K., Verhoeven, Andrea, Mandelstam, Simone A., Morgan, Angela and Scheffer, Ingrid E.. (2015). GRIN2A : An aptly named gene for speech dysfunction. Neurology. 84(6), pp. 586-593. https://doi.org/10.1212/WNL.0000000000001228