Platzer, Konrad

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

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

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

Platzer, K., Cogné, B., Hague, J., Marcelis, C. L., Mitter, D., Oberndorff, K., Park, S., Ploos van Amstel, H. K., Simonic, I., van der Smagt, J. J., et al. (2018) · Annals of Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 29

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T. B., Osmond, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8

FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

Boschann, F., Sczakiel, H., Zhao, M., Danyel, M., Stoltenburg, C., Damseh, N., Ashhab, M., Balci, T., Engelen, K. V., Osmond, M., et al. (2022) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8