2 results match your criteria: "Medical Faculty University Giessen[Affiliation]"
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One
February 2019
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We performed a systematic survey of rare deletions affecting protein-coding genes derived from exome data of patients with common forms of genetic epilepsies.
View Article and Find Full Text PDFExome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet
February 2018
Department of Neuropediatrics, Medical Faculty University Giessen, Giessen, Germany.
Article Synopsis
- Rolandic epilepsy (RE) is the most common type of focal epilepsy found in children, and this study focuses on the genetic aspects of RE and atypical RE (ARE).
- Whole-exome sequencing was performed on 194 unrelated patients with RE/ARE and compared with 567 control subjects, revealing a significant enrichment of harmful variants in the established RE/ARE gene GRIN2A.
- However, this genetic significance diminished when ARE patients were excluded from the analysis, although some gene sets showed a higher odds ratio for loss-of-function variants.