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

Jillian Nicholl, Wendy Waters, Shann Suwalski, Sue Brown, Yvonne Hull, Michael Harbord, John Entwistle, Suzanna Thompson, Damian Clark, Claire Pridmore, Eric Haan, Christopher Barnett, Lesley McGregor, Jan Liebelt, Elizabeth Thompson, Kathyrn Friend, Sharon Bain, Sui Yu, JC Mulley

    Research output: Contribution to journalArticle

    14 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)24-35
    Number of pages12
    JournalAMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
    Volume162
    Issue number1
    DOIs
    Publication statusPublished - Jan 2013

    Keywords

    • Array CGH
    • Autism
    • CNV
    • Epilepsy
    • Intellectual disability

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  • Cite this

    Nicholl, J., Waters, W., Suwalski, S., Brown, S., Hull, Y., Harbord, M., Entwistle, J., Thompson, S., Clark, D., Pridmore, C., Haan, E., Barnett, C., McGregor, L., Liebelt, J., Thompson, E., Friend, K., Bain, S., Yu, S., & Mulley, JC. (2013). Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 162(1), 24-35. https://doi.org/10.1002/ajmg.b.32114