scholarly journals Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Epilepsia ◽  
2022 ◽  
Author(s):  
Mahmoud Koko ◽  
Joshua E. Motelow ◽  
Kate E. Stanley ◽  
Dheeraj R. Bobbili ◽  
Ryan S. Dhindsa ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Case Control ◽  
Whole Exome ◽  
Generalized Epilepsy ◽  
Coding Variants

SEX-SPECIFIC ANALYSIS OF THE ADSP CASE-CONTROL WHOLE-EXOME SEQUENCING DATASET

2017 ◽  
Vol 13 (7) ◽  
pp. P571
Author(s):  
Brian W. Kunkle ◽  
Kara L. Hamilton-Nelson ◽  
Adam C. Naj ◽  
Dan Lancour ◽  
Amanda B. Kuzma ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Case Control ◽  
Whole Exome ◽  
Specific Analysis

P2-106: AFRICAN AMERICAN WHOLE EXOME SEQUENCING SUGGESTS RISK CODING VARIANTS IN IDH1 GENE

2006 ◽  
Vol 14 (7S_Part_13) ◽  
pp. P709-P710
Author(s):  
Farid Rajabli ◽  
Kara L. Hamilton-Nelson ◽  
Jeffery M. Vance ◽  
Eden R. Martin ◽  
Anthony J. Griswold ◽  
...  
Keyword(s):  
African American ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Coding Variants

scholarly journals Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

2014 ◽  
Vol 94 (3) ◽  
pp. 479
Author(s):  
Kirk E. Lohmueller ◽  
Thomas Sparsø ◽  
Qibin Li ◽  
Ehm Andersson ◽  
Thorfinn Korneliussen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Coding Variants

226. Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort

2017 ◽  
Vol 81 (10) ◽  
pp. S93
Author(s):  
Adriana Lori ◽  
Nara Sobreira ◽  
Isum D Ward Ward ◽  
Lynn M. Almli ◽  
Abigail Powers ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Post Traumatic Stress Disorder ◽  
Traumatic Stress ◽  
Stress Disorder ◽  
Case Control ◽  
Post Traumatic Stress ◽  
Whole Exome ◽  
Post Traumatic ◽  
Control Post

scholarly journals O1-09-02: Whole Exome Sequencing of Late Onset Multiplex Families Identifies Rare Coding Variants in Known and Novel Alzheimer’s Disease Genes

2016 ◽  
Vol 12 ◽  
pp. P196-P197
Author(s):  
Holly N. Cukier ◽  
Brian W. Kunkle ◽  
Sophie Rolati ◽  
Patrice L. Whitehead ◽  
Jeffery M. Vance ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Late Onset ◽  
Disease Genes ◽  
Whole Exome ◽  
Multiplex Families ◽  
Coding Variants

scholarly journals Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

2019 ◽  
Author(s):  
◽  
Yen-Chen Anne Feng ◽  
Daniel P. Howrigan ◽  
Liam E. Abbott ◽  
Katherine Tashman ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Focal Epilepsy ◽  
Single Gene ◽  
European Ancestry ◽  
Whole Exome ◽  
Genes Encoding ◽  
Rare Genetic Variation ◽  
Generalized Epilepsy

AbstractSequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared and distinct ultra-rare genetic risk factors for rare and common epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,364 controls of European ancestry. We focused on three phenotypic groups; the rare but severe developmental and epileptic encephalopathies (DEE), and the commoner phenotypes of genetic generalized epilepsy (GGE) and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy, with the strongest enrichment seen in DEE and the least in NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, while no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEE and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the top associations, including CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study confirms a convergence in the genetics of common and rare epilepsies associated with ultra-rare coding variation and highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology in the largest epilepsy WES study to date.

scholarly journals Whole exome sequencing identifies rare protein-coding variants in Behçet's disease

2015 ◽  
pp. n/a-n/a ◽  
Author(s):  
Mikhail Ognenovski ◽  
Paul Renauer ◽  
Elizabeth Gensterblum ◽  
Ina Kötter ◽  
Theodoros Xenitidis ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Protein Coding ◽  
Behcet's Disease ◽  
Whole Exome ◽  
Coding Variants
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