Rikke Steensbjerre Møller

Personlig profil

Forskningsområde

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.

Uddannelse (Akademiske kvalifikationer)

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, Københavns Universitet

2004 → 2008

MSc, Biomedine, Syddansk Universitet

1997 → 2003

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

2018 → …

Fingeraftryk Fingeraftryk er baseret på at anvende teksten fra personernes videnskabelige dokumenter til at skabe et indeks med vægtede emneordskoncepter, som definerer de vigtigste emner for hver enkelt forsker.

13 Lignende profiler

Mutation Medicin og biovidenskab

Exome Medicin og biovidenskab

Rolandic Epilepsy Medicin og biovidenskab

Electroencephalography Medicin og biovidenskab

Genetic Association Studies Medicin og biovidenskab

Microcephaly Medicin og biovidenskab

Absence Epilepsy Medicin og biovidenskab

Febrile Seizures Medicin og biovidenskab

Netværk Nyligt eksternt samarbejde på landeniveau. Dyk ned i detaljerne ved at klikke på punkterne.

Publikationer 2002 2019

125 Tidsskriftartikel
7 Letter
6 Konferenceabstrakt i tidsskrift
5 Review
6 Mere
- 4 Kommentar/debat
- 2 Konferenceabstrakt til konference

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, I : International Journal of Neuroscience. 129, 9, s. 890-895

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, I : American Journal of Human Genetics. 104, 6, s. 1060-1072

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Clathrin

Endocytosis

Exome

Entropy

Membranes

46 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, I : Nature Communications. 10, 15 s., 708.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Åben adgang

Fil

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, I : Seizure. 65, s. 131-137

Publikation: Bidrag til tidsskrift › Review › Forskning › peer review

Reflex Epilepsy

Mastication

Pediatrics

Mutation

Eyelids

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Møller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H. & 1 flere, Fazeli, W., 1. maj 2019, I : European Journal of Paediatric Neurology. 23, 3, s. 438-447

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Acetazolamide

Sleep Deprivation

Nervous System Diseases

Craniocerebral Trauma