Mag. Nadine J. Ortner, PhD
Principle Investigator
Phone: +43-(0)512-507 - 58815
ORCID: https://orcid.org/0000-0003-3882-3283
MAIN RESEARCH INTEREST
Neuro(patho)physiology & Molecular Pharmacology of Voltage-Gated Calcium Channels
"I am particularly interested in deciphering the role of voltage-gated Ca2+ channels in brain disorders such as Parkinson’s disease, autism spectrum disorder or epilepsies and their pharmacological modulation as a potential therapeutic intervention. For my studies I employ molecular (cloning, generation of stable cell lines), electrophysiological (heterologous expression systems, brain slices), immunohistochemical and pharmacological methods."
GRADUATE PROGRAM
CavX PhD Program"Calcium channels in excitabel cells"

PhD STUDENTS
Horia HERMENEAN, MSc (started 2024): expected graduation 2028
MASTER STUDENTS
Philipp PUMBERGER (started 2025): expected graduation December 2025
Title: “Electrophysiological Characterization of Cav1.3 (CACNA1D) L-Type Calcium Channel Variants in the channels’ voltage sensing domain”
Carla NEUWIRTH (started 2025): expected graduation December 2025
Title: “Systematic collection of pathogenic variants of voltage-gated Calcium channels”
NATIONAL COLLABORATIONS
INTERNATIONAL COLLABORATIONS
SHORT CURRICULUM
FELLOWSHIPS & THIRD PARTY FUNDING
RESEARCH ACHIEVEMENTS (Invited talks, Symposia & Awards)
- Upcoming: Invited talk at the Regional Physiology Meeting 2025 (RPM2025), 24-26 September 2025, Ljubljana, Slovenia. Title: “Preclinical models for a rare Cav1.3 channelopathy: insights into the pathophysiology and therapeutic options.”
- Upcoming: Accepted symposium (Organizer & Talk) at the Austrian Neuroscience Association Meeting 2025, 8-10 September 2025, Institute of Science and Technology Austria (ISTA), Klosterneuburg, Austria; Title: “Calcium channelopathies: beyond the ion-conducting pore”
- Upcoming: Invited talk at the Ion Channel Modulation Symposium ICMS 2025, 25-26 June 2025, Clare College, Cambdridge, UK; Title: “Pathogenic CACNA1D (CaV1.3) variants - linking biophysical changes to pathophysiology”
- Upcoming: Chair: The 5th European Calcium Channel Conference (ECCC), Alpbach, Austria, 26-30 May 2025; Title of Symposium: “Ion channel regulation in disease”
- Invited talk at the Pre-Congress Symposium “Ion Channels in Health and Disease” at the Annual Meeting of the German Physiological Society, Austrian Physiological Society and Life Sciences Switzerland Physiology, 18 September 2024, Vienna, Austria; Title: “Genetic variants of CACNA1D (CaV1.3) in neurodevelopmental disorders: preclinical models and clinical implications”
- Accepted symposium (Organizer & Chair) at the Annual Meeting of the German Physiological Society, Austrian Physiological Society and Life Sciences Switzerland Physiology, 18 September 2024, Vienna, Austria; Title: “Calcium channelopathies: from molecular mechanisms to clinical diversity”
- Invited talk at the 33rd Ion Channels Meeting of the Association Canaux Ioniques, 8-11 September 2024, Sète, France, Title: “Cav1.3 variants: from molecular mechanisms to therapeutic approaches”
- Heribert Konzett Award of the Austrian Pharmacological Society (APHAR) awarded annually to honour outstanding achievements of young scientists who are already conducting independent research in the field of experimental and clinical pharmacology
- Invited talk at the 19th World Congress of Basic & Clinical Pharmacology (WCP2023), 2-7 July 2023, Glasgow, Scotland; Title: “Cav1.3 calcium channel dysfunction in neurodevelopmental disease”
- Poster & Travel Award at the FASEB The Ion Channel Regulation Conference: From Molecules to Disease, 7-12 July 2019, Lisbon, Portugal. Title: “A human autism-associated CACNA1D gain-of-function mutation is disease-causing in a novel mouse model of neurodevelopmental disorder”
- Price by the Principality of Liechtenstein for scientific research at the University of Innsbruck - Awarded annually to recognize outstanding scientific research
- ALUMNI-I-MED Talk Prize at the PhD Life Science Meeting Innsbruck, 2017
- Award: PHOENIX Pharmazie Wissenschaftspreis awarded to Jörg Striessnig for the publication „Ortner et al., 2014: Pyrimidine-2,4,6-triones are a new class of voltage-gated L-type Ca2+ channel activators”, Nat Commun. 2014Jun 19;5:3897”
- Best paper Award 2015 of the PhD program MCBO of the Innsbruck Universities
PEER REVIEW ACTIVITIES / EDITORIAL ASSIGNMENTS
MEETING / CONFERENCE ORGANIZATION
- Neurodays 2025 (https://www.i-med.ac.at/neurodays/): Co-organization. A forum for the neuroscience community in Innsbruck, which aims to promote the exchange between researchers from basic to clinical neuroscience – with a special focus on early career scientists
- The 5th European Calcium Channel Conference (ECCC), Alpbach, Austria, 2025: Co-organization (https://calciumchannel.eu/). This conference is held every three years in Alpbach and attracts experts in the field of Ca2+ channel research from all over the world.
THIRD MISSION / PUBLIC OUTREACH
- Public lecture for “Wiener Volkshochschule (VHS)”: „Kalziumkanäle außer Kontrolle – Folgen und Therapieentwicklung“
- Joining the patient-led initiative The Voltage-Gated Calcium Channel Collective “The VGCCC” which aims to raise awareness, identify affected patients and promote collaboration across all voltage-gated Ca2+ channelopathies.
- Teaching Neuroscience in Schools & Youth centres in association with “Junge Uni Innsbruck”
- Pint of Science Festival Austria & WissensDurst Festival Austria Co-organization
- To promote science communication and raise awareness for scientific research in the general public
- Interactive stations on the topic “Neuroscience” for students at events such as “Lange Nacht der Forschung” or “Brain Day” as part of the Special Research Area (“Spezialforschungsbereich”) SFB-f44 Cell signalling in chronic CNS disorders https://www.uibk.ac.at/projects/hirnforschung/
PATIENT ADVOCACY GROUPS
The Voltage-Gated Calcium Channel Collective (“The VGCCC”) is a collaboration of registered non-profit organizations (CACNA1A Foundation, Timothy Syndrome Alliance CACNA1C, CACNA1E International, CACNA1H Alliance) and Patient Advocacy Groups (CACNA1B, CACNA1D, CACNA1F, CACNA1G, CACNA1I, CACNA1S). It unites caregivers, individuals, researchers, and clinicians focused on all ten 10 isoforms of voltage-gated Ca2+ genes and associated Ca2+ channelopathies with the aim to build a sustainable global partnership between patient families, clinicians, and researchers to facilitate information exchange, drive research, and raise awareness for these rare channelopathies.
ORIGINAL PAPERS IN PEER-REVIEWED JOURNALS
- Karagulyan, N., A. Thirumalai, S. Michanski, Y. Qi, Q. Fang, H. Wang, N. J. Ortner, J. Striessnig, N. Strenzke, C. Wichmann, Y. Hua and T. Moser. 2025. Gating of hair cell Ca2+ channels governs the activity of cochlear neurons. Sci Adv. (accepted). Preprint: https://www.biorxiv.org/content/10.1101/2025.01.23.634330v1).
- Haddad, S., C. Ablinger, R. Stanika, M. Hessenberger, M. Campiglio, N. J. Ortner, P. Tuluc, and G. J. Obermair. 2025. A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2. J Neurochem. 169(1):e16197, doi: 10.1111/jnc.16197, https://www.ncbi.nlm.nih.gov/pubmed/39161180.
- Torök, F., S. Salamon, N. J. Ortner, M. L. Fernandez-Quintero, J. Matthes, and J. Striessnig. 2025. Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers. Br J Pharmacol. 182(1):181-197, doi: 10.1111/bph.17357, https://www.ncbi.nlm.nih.gov/pubmed/39370994.
- Tang, X., N. J. Ortner, Y. V. Nikonishyna, M. L. Fernandez-Quintero, J. Kokot, J. Striessnig, and K. R. Liedl. 2024. Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation. Eur J Hum Genet. 32(9):1065-1073, doi: 10.1038/s41431-024-01594-y, https://www.ncbi.nlm.nih.gov/pubmed/38553610.
- Theiner, T., N. J. Ortner, H. Oberacher, G. Stojanovic, P. Tuluc, and J. Striessnig. 2024. Novel protocol for multiple-dose oral administration of the L-type Ca2+ channel blocker isradipine in mice: A dose-finding pharmacokinetic study. Channels (Austin). 18(1):2335469, doi: 10.1080/19336950.2024.2335469, https://www.ncbi.nlm.nih.gov/pubmed/38564754.
- Dannenberg, F., A. Von Moers, P. Bittigau, J. Lange, S. Wiegand, F. Torok, G. Stolting, J. Striessnig, M. M. Motazacker, M. F. Broekema, M. Schuelke, A. M. Kaindl, U. I. Scholl, and N. J. Ortner. 2024. A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia. Neurol Genet. 10(5):e200186, doi: 10.1212/NXG.0000000000200186, https://www.ncbi.nlm.nih.gov/pubmed/39246741.
- Torök, F., K. Tezcan, L. Filippini, M. L. Fernandez-Quintero, L. Zanetti, K. R. Liedl, R. S. Drexel, J. Striessnig, and N. J. Ortner*. 2023. Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies. Hum Mol Genet. 32(5):847-859, doi: 10.1093/hmg/ddac248, https://www.ncbi.nlm.nih.gov/pubmed/36208199.
- Ortner, N. J.#, A. Sah, E. Paradiso, J. Shin, S. Stojanovic, N. Hammer, M. Haritonova, N. T. Hofer, A. Marcantoni, L. Guarina, P. Tuluc, T. Theiner, F. Pitterl, K. Ebner, H. Oberacher, E. Carbone, N. Stefanova, F. Ferraguti, N. Singewald, J. Roeper, and J. Striessnig. 2023. The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. JCI Insight. 8(20), doi: 10.1172/jci.insight.162100, https://www.ncbi.nlm.nih.gov/pubmed/37698939.
- Nikonishyna, Y. V., N. J. Ortner, T. Kaserer, J. Hoffmann, S. Biskup, M. Dafotakis, K. Reetz, J. B. Schulz, J. Striessnig, and M. F. Dohrn. 2022. Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia. Mov Disord. 37(2):401-404, doi: 10.1002/mds.28835, https://www.ncbi.nlm.nih.gov/pubmed/34647648.
- El Ghaleb, Y., N. J. Ortner, W. Posch, M. L. Fernandez-Quintero, W. E. Tuinte, S. Monteleone, H. J. Draheim, K. R. Liedl, D. Wilflingseder, J. Striessnig, P. Tuluc, B. E. Flucher, and M. Campiglio. 2022. Calcium current modulation by the gamma1 subunit depends on alternative splicing of CaV1.1. J Gen Physiol. 154(9), doi: 10.1085/jgp.202113028, https://www.ncbi.nlm.nih.gov/pubmed/35349630.
- Siller, A., N. T. Hofer, G. Tomagra, N. Burkert, S. Hess, J. Benkert, A. Gaifullina, D. Spaich, J. Duda, C. Poetschke, K. Vilusic, E. M. Fritz, T. Schneider, P. Kloppenburg, B. Liss, V. Carabelli, E. Carbone, N. J. Ortner*, and J. Striessnig. 2022. β2-subunit alternative splicing stabilizes Cav2.3 Ca2+ channel activity during continuous midbrain dopamine neuron-like activity. Elife. 11, doi: 10.7554/eLife.67464, https://www.ncbi.nlm.nih.gov/pubmed/35792082.
- Ortner, N. J.*, A. Pinggera, N. T. Hofer, A. Siller, N. Brandt, A. Raffeiner, K. Vilusic, I. Lang, K. Blum, G. J. Obermair, E. Stefan, J. Engel, and J. Striessnig. 2020. RBP2 stabilizes slow Cav1.3 Ca2+ channel inactivation properties of cochlear inner hair cells. Pflugers Arch. 472(1):3-25, doi: 10.1007/s00424-019-02338-4, https://www.ncbi.nlm.nih.gov/pubmed/31848688.
- Hofer, N. T., P. Tuluc, N. J. Ortner, Y. V. Nikonishyna, M. L. Fernandes-Quintero, K. R. Liedl, B. E. Flucher, H. Cox, and J. Striessnig. 2020. Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder. Mol Autism. 11(1):4, doi: 10.1186/s13229-019-0310-4, https://www.ncbi.nlm.nih.gov/pubmed/31921405.
- Campiglio, M., P. Coste de Bagneaux, N. J. Ortner, P. Tuluc, F. Van Petegem, and B. E. Flucher. 2018. STAC proteins associate to the IQ domain of Ca(V)1.2 and inhibit calcium-dependent inactivation. Proc Natl Acad Sci U S A. 115(6):1376-1381, doi: 10.1073/pnas.1715997115, https://www.ncbi.nlm.nih.gov/pubmed/29363593.
- Ortner, N. J., G. Bock, A. Dougalis, M. Kharitonova, J. Duda, S. Hess, P. Tuluc, T. Pomberger, N. Stefanova, F. Pitterl, T. Ciossek, H. Oberacher, H. J. Draheim, P. Kloppenburg, B. Liss, and J. Striessnig. 2017. Lower Affinity of Isradipine for L-Type Ca2+ Channels during Substantia Nigra Dopamine Neuron-Like Activity: Implications for Neuroprotection in Parkinson's Disease. J Neurosci. 37(28):6761-6777, doi: 10.1523/JNEUROSCI.2946-16.2017, https://www.ncbi.nlm.nih.gov/pubmed/28592699.
- Kaur, G., A. Pinggera, N. J. Ortner, A. Lieb, M. J. Sinnegger-Brauns, V. Yarov-Yarovoy, G. J. Obermair, B. E. Flucher, and J. Striessnig. 2015. A Polybasic Plasma Membrane Binding Motif in the I-II Linker Stabilizes Voltage-gated Cav1.2 Calcium Channel Function. J Biol Chem. 290(34):21086-21100, doi: 10.1074/jbc.M115.645671, https://www.ncbi.nlm.nih.gov/pubmed/26100638.
- Ortner, N. J., G. Bock, D. H. Vandael, R. Mauersberger, H. J. Draheim, R. Gust, E. Carbone, P. Tuluc, and J. Striessnig. 2014. Pyrimidine-2,4,6-triones are a new class of voltage-gated L-type Ca2+ channel activators. Nat Commun. 5:3897, doi: 10.1038/ncomms4897, https://www.ncbi.nlm.nih.gov/pubmed/24941892.
- Lieb, A., N. Ortner, and J. Striessnig. 2014. C-terminal modulatory domain controls coupling of voltage-sensing to pore opening in Cav1.3 L-type Ca2+ channels. Biophys J. 106(7):1467-1475, doi: 10.1016/j.bpj.2014.02.017, https://www.ncbi.nlm.nih.gov/pubmed/24703308.
For publications in Pubmed click here
PEER-REVIEWED REVIEW ARTICLES
- Ortner, N. J#. 2024. Is Cav1.3 a feasible therapeutic target for a rare neurodevelopmental disorder? Expert Opin Ther Targets. 28(12):1021-1025, doi: 10.1080/14728222.2024.2442428, https://www.ncbi.nlm.nih.gov/pubmed/39670814.
- Filippini, L., N. J. Ortner, T. Kaserer, and J. Striessnig. 2023. Cav1.3-selective inhibitors of voltage-gated L-type Ca2+ channels: Fact or (still) fiction? Br J Pharmacol. 180(10):1289-1303, doi: 10.1111/bph.16060, https://www.ncbi.nlm.nih.gov/pubmed/36788128.
- Ortner, N. J#. 2021. Voltage-Gated Ca2+ Channels in Dopaminergic Substantia Nigra Neurons: Therapeutic Targets for Neuroprotection in Parkinson's Disease? Front Synaptic Neurosci. 13:636103, doi: 10.3389/fnsyn.2021.636103, https://www.ncbi.nlm.nih.gov/pubmed/33716705.
- Ortner, N. J.*, T. Kaserer, J. N. Copeland, and J. Striessnig. 2020. De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism. Pflugers Arch. 472(7):755-773, doi: 10.1007/s00424-020-02418-w, https://www.ncbi.nlm.nih.gov/pubmed/32583268.
- Ortner, N. J., and J. Striessnig. 2016. L-type calcium channels as drug targets in CNS disorders. Channels (Austin). 10(1):7-13, doi: 10.1080/19336950.2015.1048936, https://www.ncbi.nlm.nih.gov/pubmed/26039257.
- Striessnig, J., N. J. Ortner, and A. Pinggera. 2015. Pharmacology of L-type Calcium Channels: Novel Drugs for Old Targets? Curr Mol Pharmacol. 8(2):110-122, doi: 10.2174/1874467208666150507105845, https://www.ncbi.nlm.nih.gov/pubmed/25966690.
Book chapters
- Ortner, N. J. # 2023. CACNA1D-Related Channelopathies: From Hypertension to Autism. Handb Exp Pharmacol. 279:183-225, doi: 10.1007/164_2022_626, https://www.ncbi.nlm.nih.gov/pubmed/36592224.
- Striessnig, J., Ortner, N.J. (2021). Ca2+ Channel Blockers. In: Offermanns, S., Rosenthal, W. (eds) Encyclopedia of Molecular Pharmacology. Springer, Cham. https://doi.org/10.1007/978-3-030-57401-7_34.
In revision
M. Tisch, S. M. Geisler, Q. Schlemmer, M. Lechner, E. Gabassi, J. Ulz, M. Suarez Cubero, L. De Gaetano, A. Spathopoulou, J. Striessnig, N. J. Ortner, K. Günther, P.Tuluc, F. Edenhofer. Aberrant Ca2+ signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease. In revision in Molecular Psychiatry
PRESS REPORTS
05/2025 Research group investigates gene mutations responsible for rare diseases
12/2024 FWF: Neue Forschungsgruppen starten (Forschungsgruppe „Multisystemische Studie von pathogenen CACNA1D-Varianten“)
09/2023 Von der Freude abzuschließen: Nadine ORTNER im Portrait
03/2023 Lebenswichtige Kalziumkanäle gemeinsam erforschen
06/2023 Kontrollverlust mit Folgen
03/2018 Liechtenstein-Preis zum 35. Mal verliehen
02/2018 Gemeinsame Forschungsarbeit in den Neurowissenschaften wird gefördert
11/2015 PHOENIX Preis 2015: Wissenschaftspreis für die AG Jörg STRIESSNIG
MEMBERSHIPS
AUSTRIAN NEUROSCIENCE ASSOCIATION (ANA)
AUSTRIAN PHARMACOLOGICAL SOCIETY (APHAR)
BIOPHYSICAL SOCIETY