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
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
Claire C Homan
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
Monica HN Thai
1Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
Laura Määttänen
3Department of Child Neurology, Turku University Hospital, Turku, Finland
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
Irma Jarvela
6Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Marie Shaw
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
Alison Gardner
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
Jozef Gecz
2Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia
7South Australian Health and Medical Research Institute, Adelaide, Australia
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
Published 22 August 2019. DOI: 10.26508/lsa.201900386
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
In this Issue
Volume 2, No. 4
August 2019
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