Diagnostic implications of genetic copy number variation in epilepsy plus

EpilepsyAutism

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability

JAMA Neurol.

Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM

doi: 10.1001/

Epilepsy

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Lancet Neurol.

Epi4K consortium; Epilepsy Phenome/Genome Project.

doi: 10.1016/

Psychosis and Schizophrenia

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

Am J Psychiatry.

Bergen SE, Ploner A, Howrigan D; CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS

doi: 10.1176/appi.ajp.2018.

Epilepsy

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Brain.

Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M

doi: 10.1093/brain/awz195.

Epilepsy

Diagnostic Biomarkers Of Epilepsy

Curr Pharm Biotechnol.

Sueri C, Gasparini S, Balestrini S, Labate A, Gambardella A, Russo E, Leo A, Casarotto S, Pittau F, Trimboli M, Cianci V, Ascoli M, Cavalli SM, Ferrigno G, Aguglia U, Ferlazzo E

doi: 10.2174/

Autism

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism

doi: 10.1176/appi.ajp.

Epilepsy

Brain Tumor-Related Epilepsy: a Current Review of the Etiologic Basis and Diagnostic and Treatment Approaches

Curr Neurol Neurosci Rep.

Politsky JM

doi: 10.1007/s11910-017-0777-3.

Anxiety and Depression

Association of Rare Copy Number Variants With Risk of Depression

JAMA Psychiatry.

Kendall KM, Rees E, Bracher-Smith M, Legge S, Riglin L, Zammit S, O'Donovan MC, Owen MJ, Jones I, Kirov G, Walters JTR

doi: 10.1001/jamapsychiatry.

Epilepsy

Long-term outcome in adolescent-onset generalized genetic epilepsies

Epilepsia.

Vorderwülbecke BJ, Kowski AB, Kirschbaum A, Merkle H, Senf P, Janz D, Holtkamp M

doi: 10.1111/epi.13761.

Related content

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Diagnostic Biomarkers Of Epilepsy

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism

Brain Tumor-Related Epilepsy: a Current Review of the Etiologic Basis and Diagnostic and Treatment Approaches

Association of Rare Copy Number Variants With Risk of Depression

Long-term outcome in adolescent-onset generalized genetic epilepsies