Jana Zarubova
A5030777431- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- EEG and Brain-Computer Interfaces
- Neuroscience and Neuropharmacology Research
- Ion Transport and Channel Regulation
- Genomics and Rare Diseases
University Hospital in Motol
2023
Charles University
2023
Abstract Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar and juvenile myoclonic epilepsy (JME). We performed genome-wide association, colocalization, polygenic risk score, pathway analysis in JME ( n = 381). Results were followed up with functional characterisation using drosophila model. identified associated SNPs at 8q13.3 P 7.5 × 10 −9 ) 10p11.21 3.6 −8 ). The locus colocalizes SLCO5A1 expression quantitative trait loci cerebral cortex...
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression generally poor prognosis. DEE now known to have an identifiable molecular genetic basis usually examined using gene panel. However, for many patients, the cause has still not been identified. The aims this study were identify causal variants in patients whom previous examination with panel did determine their diagnosis. It...