Area of research
Molecular Biology · Genetics
Research interest
Research interests include Ion channel regulation and function, Pain Mechanisms and Treatments, Genomics and Rare Diseases, and Genetics and Neurodevelopmental Disorders.
Transcardiac Perfusion in Mice: Comparing Heart-Beating and Non-Beating Conditions for Brain Histological and Electrophysiological Analyses
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders
3-O-sulfated heparan sulfate interactors target synaptic adhesion molecules from neonatal mouse brain and inhibit neural activity and synaptogenesis in vitro
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes