Research interests

• Channelopathies (Ionenkanal-Krankheiten) are caused by defects either in an ion conducting or an associated auxiliary subunit of the channel, or by interacting partners. We are focused on structure and function of a voltage-dependent Ca2+-channel containing the Cav2.3 E-type subunit, the formerly called “pharmacoresistant” (R-type) calcium channel, which was cloned in 1994 as the human Ca_v2.3, independently in two different groups (Williams M.E. et al., Harpold M.M. & Ellis S.B., 1994 and Schneider T. et al., Stefani E. & Birnbaumer L. 1994). Its gene inactivation in mice has given us access to its physiological function which is related to the cardiac, the endocrine and the neuronal system.
• In 2018, mutations were detected in the human gene of Ca_v2.3 (Helbig et al., 2018 Am. J. Hum. Genet.). In a group of 30 individuals with developmental and epileptic encephalopathies, structural and functional variations in this widely expressed voltage-gated Ca²⁺ channel were found, which may lead to an overexcitaions in regions, related to infancy development (see comments by G. L. Carvill, 2019).
• Gene inactivation of Ca_v2.3 in mice (loss of function) reduces experimentally induced epilepsy (Weiergräber et al., 2007; Dibué-Adjei et al., 2017). However, the gain of function mutations of Ca_v2.3 in early childhood cause severe neurodevelopmental disorders, characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression (Helbig et al., 2018/2019).

Contact:
Institut für Neurophysiologie
Medizinische Fakultät
Universitätsklinikum Köln AöR
Robert-Koch Str. 39 D-50931 Koeln
Phone: +49-221-478-6946
Fax: +49-221-478-6965
Toni.schneideruni-koeln.de

http://www.neuroscience.uni-koeln.de