A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

doi:10.1038/s41431-020-0610-3

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Article

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

European journal of human genetics : EJHG - 1 Aug 2020

Benson Katherine A, White Maire, Allen Nicholas M, Byrne Susan, Carton Robert, Comerford Elizabeth, Costello Daniel, Doherty Colin, Dunleavey Brendan, El-Naggar Hany, Gangadharan Nisha, Heavin Sinéad, Kearney Hugh, Lench Nicholas J, Lynch John, McCormack Mark, Regan Mary O', Podesta Karl, Power Kevin, Rogers Anthony S, Steward Charles A, Sweeney Brian, Webb David, Fitzsimons Mary, Greally Marie, Delanty Norman, Cavalleri Gianpiero L

Abstract excerpt

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid...

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Identifiers

PMID: 32238909
DOI: 10.1038/s41431-020-0610-3
PMCID: PMC7381648

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