World's Best Scientists 2026 revealed!
Ulrich Stephani

Ulrich Stephani

D-Index & Metrics

Neuroscience

D-Index
77
Citations
17961
World Ranking
1869
National Ranking
170

Overview

Ulrich Stephani is affiliated with Kiel University in Germany and has contributed extensively to research in medicine, particularly focusing on genetics and neurodevelopmental disorders. Their work spans multiple intersecting fields, including biochemistry, genetics, molecular biology, psychiatry and mental health, cognitive neuroscience, pediatrics, perinatology and child health, as well as molecular biology.

Their primary research topics cover:

  • Epilepsy research and treatment
  • Genetics and neurodevelopmental disorders
  • Genomics and rare diseases
  • Tuberous sclerosis complex research
  • EEG and brain-computer interfaces
  • Neuroscience and neuropharmacology research
  • Intensive care unit cognitive disorders

Ulrich Stephani's recent papers include:

  • Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness, 2020, Genetics in Medicine
  • Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17,458 subjects, 2020, Brain
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, 2021, The American Journal of Human Genetics
  • Neurogeriatrics-a vision for improved care and research for geriatric patients with predominating neurological disabilities, 2020, Zeitschrift für Gerontologie und Geriatrie
  • Developmental outcomes in children/adolescents and one adult with tuberous sclerosis complex (TSC) and refractory epilepsy treated with everolimus, 2020, Epilepsy & Behavior

Frequent co-authors collaborating with Ulrich Stephani include:

  • Sarah Weckhuysen
  • Daniel P. Howrigan
  • Dennis Lal
  • Patrick Kwan
  • Slavé Petrovski

Their contributions have been published in several notable venues with multiple publications in journals such as The American Journal of Human Genetics and Seizure, as well as in Genetics in Medicine, Brain, and Zeitschrift für Gerontologie und Geriatrie.

Best Publications

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

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

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

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

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

    Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  • De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

    B. A. Neubauer;B. Fiedler;B. Himmelein;F. Kampfer

  • Simultaneous EEG-fMRI in drug-naive children with newly diagnosed absence epilepsy.

    Friederike Moeller;Hartwig R. Siebner;Stephan Wolff;Hiltrud Muhle

  • Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood.

    Andreas Van Baalen;Martin Häusler;Rainer Boor;Axel Rohr

  • Changes in activity of striato-thalamo-cortical network precede generalized spike wave discharges.

    Friederike Moeller;Hartwig R. Siebner;Stephan Wolff;Hiltrud Muhle

  • Guidelines for the use of EEG methodology in the diagnosis of epilepsy. International League Against Epilepsy: commission report. Commission on European Affairs: Subcommission on European Guidelines.

    Roland Flink;B Pedersen;A.B. Guekht;K Malmgren

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

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • Methodology of photic stimulation revisited: Updated European algorithm for visual stimulation in the EEG laboratory

    Dorothée Kasteleijn-Nolst Trenité;Guido Rubboli;Edouard Hirsch;Antonio Martins da Silva

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

    Rima Nabbout;Arun Mistry;Sameer Zuberi;Nathalie Villeneuve

  • Neuronal networks in children with continuous spikes and waves during slow sleep.

    Michael Siniatchkin;Kristina Groening;Jan Moehring;Friederike Moeller

  • Long-term seizure outcome in 211 patients with focal cortical dysplasia.

    Susanne Fauser;Charles Essang;Dirk‐Matthias Altenmüller;Anke Maren Staack

  • Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

    Christian Körner;Roland Knauer;Ulrich Stephani;Thorsten Marquardt

  • Absence seizures: Individual patterns revealed by EEG‐fMRI

    Friederike Moeller;Pierre LeVan;Hiltrud Muhle;Ulrich Stephani

  • Consensus on diagnosis and management of JME: From founder's observations to current trends.

    Dorothée G.A. Kasteleijn Nolst Trenité;Bettina Schmitz;Bettina Schmitz;Dieter Janz;Dieter Janz;Antonio V. Delgado-Escueta;Antonio V. Delgado-Escueta

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

Frequent Co-Authors

Michael Siniatchkin
Michael Siniatchkin Kiel University
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Rainer Boor
Rainer Boor Kiel University
Thomas Sander
Thomas Sander University of Cologne
Felix Rosenow
Felix Rosenow Goethe University Frankfurt
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Yvonne G. Weber
Yvonne G. Weber University of Tübingen
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Franz Petermann
Franz Petermann University of Bremen
Julia Jacobs
Julia Jacobs University of Calgary

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying neuroscience opens a variety of rewarding career pathways in both clinical and research settings. Many students interested in brain science also explore related fields such as psychology, counseling, and therapy—all of which can be pursued through convenient online programs.

For those drawn to counseling, choosing a cacrep accredited program is essential for proper credentials and future licensure. Affordability is often a key consideration, and you can compare options by looking for the cheapest online counseling degree to ensure your education fits your budget.

Some neuroscience students pivot toward family systems and interpersonal dynamics. For this career direction, a marriage and family therapy degree online offers specialized training that complements neuroscience knowledge.

Others may choose advanced study in psychology—a natural complement to neuroscience. Consider an online psychology masters degree for a flexible path to research, teaching, or clinical roles.

Best Scientists Citing Ulrich Stephani

Trending Scientists