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

doi:10.1002/ajmg.b.32114

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 journal › Article › peer-review

22 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 language	English
Pages (from-to)	24-35
Number of pages	12
Journal	AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Volume	162
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.b.32114
Publication status	Published - Jan 2013

Keywords

Array CGH
Autism
CNV
Epilepsy
Intellectual disability

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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

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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.",

keywords = "Array CGH, Autism, CNV, Epilepsy, Intellectual disability",

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

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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, vol. 162, no. 1, pp. 24-35. https://doi.org/10.1002/ajmg.b.32114

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AU - Nicholl, Jillian

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AU - Brown, Sue

AU - Hull, Yvonne

AU - Harbord, Michael

AU - Entwistle, John

AU - Thompson, Suzanna

AU - Clark, Damian

AU - Pridmore, Claire

AU - Haan, Eric

AU - Barnett, Christopher

AU - McGregor, Lesley

AU - Liebelt, Jan

AU - Thompson, Elizabeth

AU - Friend, Kathyrn

AU - Bain, Sharon

AU - Yu, Sui

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

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