Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH§

Authors

  • Jillian Nicholl,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Wendy Waters,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Shanna Suwalski,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Sue Brown,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Yvonne Hull,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Michael G. Harbord,

    1. Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide, South Australia, Australia
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  • John Entwistle,

    1. Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide, South Australia, Australia
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  • Suzanna Thompson,

    1. Department of Neurology, Women's and Children's Health Network, North Adelaide, South Australia, Australia
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  • Damian Clark,

    1. Department of Neurology, Women's and Children's Health Network, North Adelaide, South Australia, Australia
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  • Claire Pridmore,

    1. Department of Neurology, Women's and Children's Health Network, North Adelaide, South Australia, Australia
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  • Eric Haan,

    1. South Australian Clinical Genetics Service, SA Pathology at Woman's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
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  • Christopher Barnett,

    1. South Australian Clinical Genetics Service, SA Pathology at Woman's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
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  • Lesley McGregor,

    1. South Australian Clinical Genetics Service, SA Pathology at Woman's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
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  • Jan Liebelt,

    1. South Australian Clinical Genetics Service, SA Pathology at Woman's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
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  • Elizabeth M. Thompson,

    1. South Australian Clinical Genetics Service, SA Pathology at Woman's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
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  • Kathryn Friend,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Sharon M. Bain,

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, South Australia, Australia
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  • Dr. Sui Yu,

    Corresponding author
    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
    • Directorate of Genetics and Molecular Pathology, Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
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  • John C. Mulley

    1. Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
    2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
    3. School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, South Australia, Australia
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  • Conflicts of interest: none to declare.

  • Sui Yu and John C. Mulley contributed equally to this study.

  • §

    How to Cite this Article: Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. 2012. Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH. Am J Med Genet Part B 162B:24–35.

Abstract

The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed prospectively in a diagnostic setting using a standardized oligo-array CGH platform. Seventy-three (29.6%) had copy number variations (CNVs) and of these 73 cases, 27 (37.0%) had CNVs that were likely causative. These 27 cases comprised 10.9% of the 247 cases reviewed. The range of pathogenic CNVs associated with seizures was consistent with the existence of many genetic determinants for epilepsy. © 2012 Wiley Periodicals, Inc.

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