Research Output per year
Personal profile
Research areas
Gene discovery in neurodevelopmental disorders and epilepsy.
Genotype-phenotype correlation, including electro-clinical characterization of genetic epilepsy syndromes.
Functional characterization of genetic defects to understand their pathomechanisms.
Improve existing or develop new personalized therapies.
Education/Academic qualification
Head of the Epilepsy Genetics Group, Associate professor, Danish Epilepsy Centre, Dianalund
2016 → 2018
Research Management Course, Copenhagen Business School
Mar 2017 → Jun 2017
Head of the Epilepsy Genetics Group, Assistant professor, Danish Epilepsy Centre, Dianalund
2013 → 2016
Post doc., Danish Epilepsy Centre, Dianalund
2008 → 2013
PhD , Medical Genetics, University of Copenhagen
2004 → 2008
MSc, Biomedine, University of Southern Denmark
1997 → 2003
Head of Department of Epilepsy Genetics and Personalized Medicine, Associate professor, Danish Epilepsy Centre, Dianalund
2018 → …
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- 13 Similar Profiles
Mutation
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Rolandic Epilepsy
Medicine & Life Sciences
Electroencephalography
Medicine & Life Sciences
Genetic Association Studies
Medicine & Life Sciences
Microcephaly
Medicine & Life Sciences
Absence Epilepsy
Medicine & Life Sciences
Febrile Seizures
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 2002 2019
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family
Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2. Sep 2019, In : International Journal of Neuroscience. 129, 9, p. 890-895Research output: Contribution to journal › Journal article › Research › peer-review
Neuronal Ceroid-Lipofuscinoses
Mutation
Proteins
Amino Acids
Live Birth
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
the EuroEPINOMICS-RES Consortium & the GRIN Consortium, 6. Jun 2019, In : American Journal of Human Genetics. 104, 6, p. 1060-1072Research output: Contribution to journal › Journal article › Research › peer-review
Clathrin
Endocytosis
Exome
Entropy
Membranes
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy
Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, G., Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., Nov 2019, In : Epilepsia. 60, 11Research output: Contribution to journal › Journal article › Research › peer-review
Alleles
Movement Disorders
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
C4RCD Research Group & AR working group of the EuroEPINOMICS RES Consortium, 12. Feb 2019, In : Nature Communications. 10, 15 p., 708.Research output: Contribution to journal › Journal article › Research › peer-review
Open Access
File
Valine-tRNA Ligase
Amino Acyl-tRNA Synthetases
Microcephaly
Zebrafish
mutations
Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases
Stülpnagel, C. V., Hartlieb, T., Borggräfe, I., Coppola, A., Gennaro, E., Eschermann, K., Kiwull, L., Kluger, F., Krois, I., Møller, R. S., Rössler, F., Santulli, L., Schwermer, C., Wallacher-Scholz, B., Zara, F., Wolf, P. & Kluger, G., Feb 2019, In : Seizure. 65, p. 131-137Research output: Contribution to journal › Review › Research › peer-review
Reflex Epilepsy
Mastication
Pediatrics
Mutation
Eyelids
Activities 2018 2019
Supervision - Roles and Relations
Rikke Steensbjerre Møller (Participant)26. Feb 2019
Activity: Attending an event › Organisation or participation in workshops, courses or seminars
IRS Strategiseminar for forskningsledere
Rikke Steensbjerre Møller (Participant)4. Feb 2019 → 5. Feb 2019
Activity: Attending an event › Organisation or participation in workshops, courses or seminars
Hope for new treatment of severe epilepsy
Rikke Steensbjerre Møller (Lecturer)17. Dec 2018
Activity: Talks and presentations › Talks and presentations in private or public companies
Epilepsy Genetics in the Era of Precision Medicine: Implications for Testing and Targeted Treatment
Rikke Steensbjerre Møller (Lecturer)20. Nov 2018
Activity: Talks and presentations › Guest lectures, external teaching and course activities at other universities
Hope for new treatment of severe epilepsy
Rikke Steensbjerre Møller (Lecturer)8. Nov 2018
Activity: Talks and presentations › Conference presentations
Press / Media
Forældre med sjælden genfejl: »Når man har født et sygt barn, er der også et meget stærkt ønske om at få et raskt barn«
23/06/2018
1 Media contribution
Press/Media: Press / Media