A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy
... affects calcium channel-dependent as well as synaptic functions of α2δ-2
Recent publication
Sabrin Haddad, MSc, is a PhD student of Prof. Dr Gerald Obermair and has been working on the p.R593P mutation in genes that code for the α2δ isoforms of calcium channels. The α2δ isoforms are subunits of voltage-gated calcium channels and influence channel function. The p.R593P mutation has been associated with neurological disorders, which is why the research group specifically addressed the synaptic functions of the α2δ-2 subunit in both in vitro and in vivo test systems. The results emphasise that the synaptic functions of calcium channels and their subunits are as worthy to be investigated as their channel function. Neurological and neuropsychiatric disorders as well as developmental disorders may be linked to pathologies in the synaptic function of the α2δ-2 subunit. The work was supported by the Austrian Science Fund and the Gesellschaft für Forschungsförderung Niederösterreich and has been published freely available in the Journal of Neurochemistry thanks to open access funding from Karl Landsteiner University.
Haddad, S, Ablinger, C, Stanika, R, Hessenberger, M, Campiglio, M, Ortner, NJ, Tuluc, P & Obermair, GJ 2024, 'A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2', Journal of Neurochemistry. https://doi.org/10.1111/jnc.16197
Sabrin Haddad MSc
Scientific Staff (PreDoc)
Division of Physiology
Cornelia Ablinger, MSc.
Wiss. Mitarbeiterin (PhD) im Rahmen des CavX PhD Programms an der Medizinischen Universität Innsbruck
Division of Physiology
Dr. Ruslan Stanika
Scientific Staff (Sen. PostDoc)
Division of Physiology
Dr. Manuel Hessenberger MSc
Scientific Staff (Sen. PostDoc), Safety Officer
Division of Physiology
Univ.-Prof. Mag. Dr. Gerald Obermair
Head of, Head of
PhD Programme Mental Health and Neuroscience, Division of Physiology
