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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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Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
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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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  • Genetics, Gene Therapy & Genetic Disease

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