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; Maria Arvio; Irma Jarvela; Marie Shaw; Alison Gardner; Jozef Gecz; Cheryl Shoubridge

doi:10.26508/lsa.201900386

Research Article

Open Access

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

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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