Møller, Rikke S.

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 53

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 49

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Krey, I., von Spiczak, S., Johannesen, K. M., Hikel, C., Kurlemann, G., Muhle, H., Beysen, D., Dietel, T., Møller, R. S., Lemke, J. R., et al. (2022) · Neurotherapeutics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N., & Tümer, Z. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 41

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders

Cited by 34

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Mohammadi, N. A., Ahring, P. K., Yu Liao, V. W., Chua, H. C., Ortiz de la Rosa, S., Johannesen, K. M., Michaeli-Yossef, Y., Vincent-Devulder, A., Meridda, C., Bruel, A.-L., et al. (2024) · eBioMedicine

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 27

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties

Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., et al. (2023) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 23

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val

Johannesen, K. M., Miranda, M. J., Lerche, H., & Møller, R. S. (2016) · Journal of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 18

Spectrum of NMDA receptor variants in neurodevelopmental disorders and epilepsy

Gjerulfsen, C. E., Krey, I., Klöckner, C., Rubboli, G., Lemke, J. R., & Møller, R. S. (2024) · Methods in Molecular Biology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 11