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

journal contribution
posted on 15.04.2020 by Katherine Benson, Maire White, Nicholas M. Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel Costello, Colin Doherty, Brendan Dunleavey, Hany El-Naggar, Nisha Gangadharan, Sinead Heavin, Hugh Kearney, Nicholas J Lench, John Lynch, Mark McCormack, Mary O'Regan, Karl Podesta, Kevin Power, Anthony S. Rogers, Charles A. Steward, Brian Sweeney, David Webb, Mary Fitzsimons, Marie Greally, Norman Delanty, Gianpiero Cavalleri
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 intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients. Variant interpretation American College of Medical Genetics and Genomics (ACMG) guidelines. We demonstrate that WES, in combination with array-comparative genomic hybridisation, provides a diagnostic rate of 27% in unrelated adult epilepsy patients and 42% in unrelated paediatric patients. We observe a 2.7% rate of ACMG-defined incidental findings. Our findings indicate that WES has similar utility in both adult and paediatric cohorts and is appropriate for diagnostic testing in both epilepsy patient groups.


eHealth Ireland, Health Service Executive (HSE), Grant Number 13/CDA/2223

Science Foundation Ireland (SFI) under Grant Number 16/RC/3948 co-funded under the 34 European Regional Development Fund and by FutureNeuro industry partners.



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Published Citation

Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. European Journal of Human Genetics. 2020; April 1 [epub ahead of print]

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