Hedrich, Ulrike B. S.

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

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

Impaired Action Potential Initiation in GABAergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human NaV1.1 Mutation

Hedrich, U. B. S., Liautard, C., Kirschenbaum, D., Pofahl, M., Lavigne, J., Liu, Y., Theiss, S., Slotta, J., Escayg, A., Dihné, M., et al. (2014) · The Journal of Neuroscience

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

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

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology

Ion channel regulation and functionEpilepsy research and treatment

Cited by 95

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Hedrich, U. B. S., Lauxmann, S., Wolff, M., Synofzik, M., Bast, T., Binelli, A., Serratosa, J. M., Martínez-Ulloa, P., Allen, N. M., King, M. D., et al. (2021) · Science Translational Medicine

Ion channel regulation and functionEpilepsy research and treatment

Cited by 87