Pendziwiat, Manuela

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

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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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Genome-wide association study in essential tremor identifies three new loci

Müller, S. H., Girard, S. L., Hopfner, F., Merner, N. D., Bourassa, C. V., Lorenz, D., Clark, L. N., Tittmann, L., Soto-Ortolaza, A. I., Klebe, S., et al. (2016) · Brain

Deep Brain Stimulation and Movement DisordersGenetic Associations and Epidemiology

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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

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