Neubauer, Bernd A.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., et al. (2016) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 200

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Lal, D., Reinthaler, E. M., Altmüller, J., Toliat, M. R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R. S., Muhle, H., et al. (2013) · PLoS ONE

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 113

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

A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

Strzelczyk, A., Schubert‐Bast, S., Bast, T., Bettendorf, U., Fiedler, B., Hamer, H. M., Herting, A., Kalski, M., Kay, L., Kieslich, M., et al. (2019) · Epilepsia

Epilepsy research and treatmentHealth Systems, Economic Evaluations, Quality of Life

Cited by 60

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48

Extending the phenotypic spectrum of RBFOX 1 deletions: Sporadic focal epilepsy

Lal, D., Pernhorst, K., Klein, K. M., Reif, P., Tozzi, R., Toliat, M. R., Winterer, G., Neubauer, B., Nürnberg, P., Rosenow, F., et al. (2015) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 40