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Research Article
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Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, View ORCID ProfileMaria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, View ORCID ProfileJozef Gecz, View ORCID ProfileCheryl Shoubridge  Correspondence email
Matilda R Jackson
1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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Karagh E Loring
1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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Claire C Homan
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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Monica HN Thai
1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
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Laura Määttänen
3Department of Child Neurology, Turku University Hospital, Turku, Finland
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Maria Arvio
3Department of Child Neurology, Turku University Hospital, Turku, Finland
4Joint Authority for Päijät-Häme Social and Health Care, Lahti, Finland
5PEDEGO, Oulu University Hospital, Oulu, Finland
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  • ORCID record for Maria Arvio
Irma Jarvela
6Department of Medical Genetics, University of Helsinki, Helsinki, Finland
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Marie Shaw
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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Alison Gardner
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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Jozef Gecz
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
7South Australian Health and Medical Research Institute, Adelaide, Australia
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  • ORCID record for Jozef Gecz
Cheryl Shoubridge
1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
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  • ORCID record for Cheryl Shoubridge
  • For correspondence: Cheryl.shoubridge@adelaide.edu.au
Published 22 August 2019. DOI: 10.26508/lsa.201900386
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Article Information

vol. 2 no. 4 e201900386
DOI 
https://doi.org/10.26508/lsa.201900386
PubMed 
31439632

Published By 
Life Science Alliance
Online ISSN 
2575-1077
History 
  • Received March 20, 2019
  • Revision received July 25, 2019
  • Accepted August 15, 2019
  • Published online August 22, 2019.

Copyright & Usage 
© 2019 Jackson et al. This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).

Author Information

  1. Matilda R Jackson1,2,
  2. Karagh E Loring1,2,
  3. Claire C Homan2,
  4. Monica HN Thai1,
  5. Laura Määttänen3,
  6. Maria Arvio3,4,5,
  7. Irma Jarvela6,
  8. Marie Shaw2,
  9. Alison Gardner2,
  10. Jozef Gecz2,7 and
  11. Cheryl Shoubridge1,2⇑
  1. 1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
  2. 2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
  3. 3Department of Child Neurology, Turku University Hospital, Turku, Finland
  4. 4Joint Authority for Päijät-Häme Social and Health Care, Lahti, Finland
  5. 5PEDEGO, Oulu University Hospital, Oulu, Finland
  6. 6Department of Medical Genetics, University of Helsinki, Helsinki, Finland
  7. 7South Australian Health and Medical Research Institute, Adelaide, Australia
  1. Correspondence: Cheryl.shoubridge{at}adelaide.edu.au
View Full Text

Funding

  • Australian National Health and Medical Research Council

    1063025
  • Channel 7 Children’s Research Foundation

    161263
  • Australian Research Council

    FT120100086
    C Shoubridge
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Heterozygous loss of function of IQSEC2
Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge
Life Science Alliance Aug 2019, 2 (4) e201900386; DOI: 10.26508/lsa.201900386

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Heterozygous loss of function of IQSEC2
Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge
Life Science Alliance Aug 2019, 2 (4) e201900386; DOI: 10.26508/lsa.201900386
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Volume 2, No. 4
August 2019
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