Determination of genetic causes and functional consequences of early childhood cerebral developmental disorders such as autism and developmental epileptic encephalopathy using patient-specific human cell models

The study will enroll patients with severe neurodevelopmental disorders including epilepsy. Patient-specific stem cells are obtained from blood samples and differentiated into brain cells. These cells are then examined for genetic, morphological and physiological changes. The data is used to identify patient-specific biomarkers and develop therapies. At the same time, clinical data is collected.

DNA methylation as a biomarker in epilepsy

Here, the methylation pattern of focal cortical dysplasias is examined in brain sections and in blood. The goal is to develop a liquid biopsy. The project is carried out together with the Institute of Clinical Pathology and Molecular Pathology, the University Department of Neurosurgery and the Cancer (Epi)Genetics Group, Department of Life Sciences and Medical Biology, Paris Lodron University Salzburg.

EpiScan4Kids -AI-supported telemonitoring for children and adolescents with epilepsy

In this project, together with the Austrian Institute for Technology and other partners, we are developing an AI-supported mobile EEG device for children. The project receives funding from the FFG.

Classification and differential diagnosis of epilepsies based on the intestinal microbiome

In this study, we analyse the gut microbiome of patients with focal and generalised epilepsy as well as healthy subjects by using 16S amplicon-based metagenomics to isolate fecal DNA. In this way, we will prove the hypothesis that patients with epilepsy have a different gut microbiome than healthy subjects. However, we will also show that the gut microbiome differs in patients with focal and generalised epilepsy as well as in seizure-free and non-seizure-free patients. This project is funded as part of an Impetus Call.

Mobile Arm Support Exoskeleton for Neuromuscular Disorders (MASE4NMD)

Together with the Institute of Robotics, the Institute of Polymer Product Engineering and the LIT Robopsychology Lab, we are developing an exoskeleton for patients with muscle diseases.

Register studies

The collection and analysis of clinical data provides valuable insight into different diseases. We operate the following registers:

• Registry for "common" and "rare" genetic epilepsies with and without encephalopathy
• MECP2 Duplication Syndrome (MDS) Patient Registry

Cognitive development and quality of life of children and adolescents with newly diagnosed epilepsy in the first 18 months of treatment

(PI Dr. Astrid Eisenkölbl)

Prognostic parameters in early-onset epilepsy

(PI: Dr. Anna Wiedemann)

Biomarkers in early-onset epilepsy

(PI: Dr. Manuel Pühringer)