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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

20162018

Research Management Course, Copenhagen Business School

Mar 2017Jun 2017

Head of the Epilepsy Genetics Group, Assistant professor, Danish Epilepsy Centre, Dianalund

20132016

Post doc., Danish Epilepsy Centre, Dianalund

20082013

PhD , Medical Genetics, University of Copenhagen

20042008

MSc, Biomedine, University of Southern Denmark

19972003

Head of Department of Epilepsy Genetics and Personalized Medicine, Associate professor, Danish Epilepsy Centre, Dianalund

2018 → …

Fingerprint Dive into the research topics where Rikke Steensbjerre Møller is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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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. 890-895

Research output: Contribution to journalJournal articleResearchpeer-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. 1060-1072

Research output: Contribution to journalJournal articleResearchpeer-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, 11

Research output: Contribution to journalJournal articleResearchpeer-review

Alleles
Movement Disorders
61 Downloads (Pure)

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 journalJournal articleResearchpeer-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. 131-137

Research output: Contribution to journalReviewResearchpeer-review

Reflex Epilepsy
Mastication
Pediatrics
Mutation
Eyelids

Activities 2018 2019

  • 6 Conference presentations
  • 2 Organisation or participation in workshops, courses or seminars
  • 2 Guest lectures, external teaching and course activities at other universities
  • 2 Talks and presentations in private or public companies

Supervision - Roles and Relations

Rikke Steensbjerre Møller (Participant)
26. Feb 2019

Activity: Attending an eventOrganisation or participation in workshops, courses or seminars

IRS Strategiseminar for forskningsledere

Rikke Steensbjerre Møller (Participant)
4. Feb 20195. Feb 2019

Activity: Attending an eventOrganisation or participation in workshops, courses or seminars

Hope for new treatment of severe epilepsy

Rikke Steensbjerre Møller (Lecturer)
17. Dec 2018

Activity: Talks and presentationsTalks 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 presentationsGuest 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 presentationsConference presentations