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

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 seque...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2020
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7381648/
https://ncbi.nlm.nih.gov/pubmed/32238909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0610-3
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi