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

18 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

Nicholl, Jillian ; Waters, Wendy ; Suwalski, Shann ; Brown, Sue ; Hull, Yvonne ; Harbord, Michael ; Entwistle, John ; Thompson, Suzanna ; Clark, Damian ; Pridmore, Claire ; Haan, Eric ; Barnett, Christopher ; McGregor, Lesley ; Liebelt, Jan ; Thompson, Elizabeth ; Friend, Kathyrn ; Bain, Sharon ; Yu, Sui ; Mulley, JC. / Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. In: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2013 ; Vol. 162, No. 1. pp. 24-35.

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title = "Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH",

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.",

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doi = "10.1002/ajmg.b.32114",

language = "English",

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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

Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. / Nicholl, Jillian; Waters, Wendy; Suwalski, Shann; Brown, Sue; Hull, Yvonne; Harbord, Michael; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth; Friend, Kathyrn; Bain, Sharon; Yu, Sui; Mulley, JC.

In: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, Vol. 162, No. 1, 01.2013, p. 24-35.

Research output: Contribution to journal › Article › peer-review

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AU - Nicholl, Jillian

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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

AU - Mulley, JC

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KW - Array CGH

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SN - 1552-4841

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

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