Research projects
| Molecular characterization of encephalopathies with childhood onset |
| Combined genomics and transcriptomics in rare neurometabolic disease research |
| Novel genes causing primary cilia dysfunction in congenital brain malformations (Doriana Misceo's project group) |
| The only project not focusing on brain malformations is our work on Stormorken syndrome (OMIM 185070), which was initiated >20 years ago in collaboration with Prof. Helge Stormorken. We have documented that the mutation STIM1 p.R304W causes this syndrome, and we have established mouse lines expressing the mutated protein: Studying the effect of the Stormorken syndrome causing mutation STIM1 R304W in mouse models |