Identifikation von Suszeptibilitätsgenen für Synkope

• Antragsteller: Dr. Karl Martin Klein
• Fachliche Zuordnung: Klinische Neurologie; Neurochirurgie und Neuroradiologie
• Förderung: Förderung von 2008 bis 2011
• Projektkennung: Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 74790882

Syncope is a common differential diagnosis of epilepsy that is defined as sudden transient loss of consciousness and postural tone due to global cerebral hypoperfusion. A related phenomenon is breath holding attacks which occur in up to 4% of children under the age of 5 years. Clinical genetic evidence strongly suggests a major genetic contribution for these disorders. The pathophysiology of these disorders has been intensively investigated and remains poorly understood, with a number of competing hypotheses. In contrast, their genetics has not been well studied. This research project aims at the determination of loci of major effect in large families with familial syncope and familial breath holding attacks using linkage analysis. Genes for syncope are to be identified by sequence analysis of candidate genes in the critical regions. Gene identification in large families should firstly provide important clues to understanding pathophysiology. Secondly, it will provide an entrée to understanding the complex genetics of common forms of these disorders.

• DFG-Verfahren: Forschungsstipendien
• Internationaler Bezug: Australien
• Gastgeber: Professor Samuel F. Berkovic