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

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Lemierre Syndrome Medicine & Life Sciences
Genetic Heterogeneity Medicine & Life Sciences
Absence Epilepsy Medicine & Life Sciences
Movement Disorders Medicine & Life Sciences
Febrile Seizures Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Jugular Veins Medicine & Life Sciences

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Research Output 2013 2019

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, p. 2277-2285

Research output: Contribution to journalJournal articleResearchpeer-review

Alleles
Movement Disorders

From next generation sequencing to targeted treatment of non-acquired epilepsies

Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R. & Johannesen, K. M., Mar 2019, In : Expert Review of Molecular Diagnostics. 19, 3, p. 217-228

Research output: Contribution to journalReviewResearchpeer-review

Exome
Precision Medicine
Genetic Heterogeneity
Expert Testimony
Routine Diagnostic Tests

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., Benda, J., Møller, R. S. & Lerche, H., 1. Feb 2019, In : Brain. 142, 2, p. 376-390

Research output: Contribution to journalJournal articleResearchpeer-review

Mutation
Neuroblastoma
Neurons
Genetic Association Studies
Cultured Cells

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., May 2019, In : Epilepsia. 60, 5, p. 830-844

Research output: Contribution to journalJournal articleResearchpeer-review

Muscle Hypotonia
Movement Disorders
Electroencephalography
Cognitive Dysfunction

Press / Media

Mysteries of SCN8A mutation in epilepsy unraveled

Katrine Johannesen

06/12/2015

1 item of Media coverage

Press/Media: Press / Media