Stephani, Ulrich

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 551

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 474

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 445

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

Nabbout, R., Mistry, A., Zuberi, S., Villeneuve, N., Gil-Nagel, A., Sanchez-Carpintero, R., Stephani, U., Laux, L., Wirrell, E., Knupp, K., et al. (2020) · JAMA Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 251

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

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

Cited by 100

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

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

Jähn, J. A., von Spiczak, S., Muhle, H., Obermeier, T., Franke, A., Mefford, H. C., Stephani, U., & Helbig, I. (2014) · Epilepsy Research

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 26