Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta CoppolaElena CelliniHannah StambergerElmo SaarentausValentina CeticaDennis LalTania DjémiéMagdalena Bartnik-GlaskaBerten CeulemansJ Helen CrossTine DeconinckSalvatore De MasiThomas DornRenzo GuerriniDorotha Hoffman-ZacharskaR Frank KooyLieven LagaeNicholas LenchJohannes R LemkeErsilia LucenteforteFrancesca MadiaHeather C MeffordDeborah MorroghPeter NuernbergAarno PalotieAn-Sofie SchoonjansPasquale StrianoElzbieta SzczepanikAnna TostevinJoris R VermeeschHilde Van EschWim Van PaesschenJonathan J WatersSarah WeckhuysenFederico ZaraPeter De JongheSanjay M SisodiyaCarla Marininull nullnull nullPublished in: Epilepsia (2019)
The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes.
Keyphrases
- copy number
- genome wide
- mitochondrial dna
- newly diagnosed
- ejection fraction
- electronic health record
- machine learning
- dna methylation
- small molecule
- prognostic factors
- bioinformatics analysis
- temporal lobe epilepsy
- gene expression
- deep learning
- big data
- escherichia coli
- quality improvement
- staphylococcus aureus
- patient reported