Johannesen, Katrine M.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 140

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Absalom, N. L., Liao, V. W. Y., Johannesen, K. M. H., Gardella, E., Jacobs, J., Lesca, G., Gokce-Samar, Z., Arzimanoglou, A., Zeidler, S., Striano, P., et al. (2022) · Nature Communications

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 89

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

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

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