Registry Leadership

Our Steering Committee is comprised of the leaders of well-established registries from around the world.

Barbara Kroner, PhD is an established epidemiologist and clinical coordinating center principal investigator, with expertise in study and survey design, patient recruitment, and biospecimen collection. She is currently the PI on an NIH-funded study of thoracic aortic disease among persons with rare syndromes and a CDC-funded study of childhood-onset epilepsy. She is also the co-PI on a grant to develop a mobile seizure alert device known as esap. Dr. Kroner has a child with Aicardi syndrome, one of the rare epilepsy syndromes included in the Rare Epilepsy Network, where she is one of the leading research scientists, and she is active in the patient advocacy community.


Dr. Celina von Stülpnagel-Steinbeis is the principal investigator for the Global Registry. She is a pediatrician and a pediatric neurologist working in the Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany as well as at the Institute for Rehabilitation, Transition and Palliation of Neurologically-ill Children at the Paracelsus Medical University Salzburg/Austria. Her clinical and research interests are focused on epilepsy, especially genetic forms of epilepsy and searching for individualized treatment options, as well as the long-term outcome and the transition of patients with genetic disorders in combination with epilepsy like Nicolaides-Baraitser syndrome, Dravet syndrome, Angelman syndrome etc.). She is project leader of the 2008 by Prof. Gerhard Kluger founded international study group, the Personalized Therapy in Rare Pediatric Epilepsies-Study Group/ PTIRPE-SG, which shares information about rare genetic epilepsies and fosters discoveries and partnerships around the world. In particular, this Group has big collectives of patients with CDKL5, SYNGAP1 or PCDH19 treatment data could be collected, evaluated and published.

Dale Hesdorffer, PhD's work is focused on epilepsy with a focus on the co-morbidity of epilepsy and psychiatric disorders in several studies. She works on the Human Epilepsy Project and she is the epidemiologist for FEBSTAT and leads the data analysis core. With a CDC grant on rare epilepsies Dr. Grinspan and Dr. Hesdorffer are using the New York City CDRN to use text to produce regular expressions in order to identify the rare epilepsies and analyze the incidence and prevalence of rare epilepsies as well as risk factors for several outcomes, including provision of care. With Dr. Kroner, Dr. Hesdorffer is one of the leading research scientists in the Rare Epilepsy Network.

Dan Lowenstein, MD Dr. Lowenstein is the Robert B. and Ellinor Aird Professor of Neurology, Director of the UCSF Epilepsy Center, and the Executive Vice-Chancellor and Provost at the University of California, San Francisco.  He is a physician-scientist interested in deciphering the underlying mechanisms of epilepsy, with a particular focus on genetic causes.

David Bearden MD is a pediatric neurologist and Assistant Professor of Neurology at the University of Rochester School of Medicine with a clinical focus on neurogenetics.   Dr. Bearden's research focuses jointly on genetic epilepsies and on infections with an effect on the nervous system, such as Human Immunodeficiency Virus.  Dr. Bearden is the principal investigator of the KCNT1 registry, and is particularly interested in developing targeted therapies for genetic epilepsies.

Dennis J. Dlugos, MD, MSCE, is a Professor of Neurology and Pediatrics at The Children’s Hospital of Philadelphia and the University of Pennsylvania School of Medicine.  He is director of the Section of Clinical Neurophysiology and the Epilepsy/Clinical Neurophysiology Fellowship. Dr. Dlugos is a frequent lecturer locally and at national medical meetings on topics related to pediatric neurology, epilepsy, and electroencephalograms. 

Holger Lerche, MD is a Professor of Neurology and the Director of the Department of Neurology and Epilepsy at the University of Tubingen. He one of the principal investigators for the international scientific collaboration in functional genomics, the Epicure Project. Dr. Lerche's research interests include epilepsy genomics, antiepileptic drugs, and analysis of ion channels in epilepsy.

Ingo Helbig, MD, is a European pediatrician and child neurologist currently working at the Children’s Hospital of Philadelphia with a focus on the diagnosis and treatment of genetic epilepsies. Dr. Helbig received his clinical and research training at the Epilepsy Research Centre, Melbourne, Australia, the Department of Neuropediatrics at the University of Kiel, and the Division of Neurology, Children’s Hospital of Philadelphia. He has been involved in the discovery of microdeletions as genetic risk factors for epilepsy and has recently co-chaired the European EuroEPINOMICS-RES consortium, a European collaboration involved in many of the recent gene findings for severe epilepsies. He is currently member of the Genetics Commission of the International League Against Epilepsy and member of the ClinGen pediatric neurology clinical domain working group. Ingo is writing about epilepsy and genes on Beyond the Ion Channel, a scientific blog dedicated to epilepsy and genes.

Mike Johnson, MD is a Consultant Neurologist at Imperial College Healthcare and Deputy Head of the Centre for Clinical Translation in the Division of Brain Sciences at Imperial College. His research involves the application of computational biology and genomics to discover new drug targets and therapies for diseases of the human brain. Dr. Johnson coordinated the largest prospective epilepsy pharmacogenetic cohort worldwide. He is amember of the International League Against Epilepsy (ILAE) Task Force on Pharmacogenetics, and the Epi4K, EpiPGx and EPITARGET international consortia in epilepsy.


Peter DeJonghe, MD is a Professor of Neurology at the University of Antwerp, Belgium. His research group focuses on the clinical and molecular genetic aspects of monogenic Rare Epilepsy Syndromes (RES), Inherited Peripheral Neuropathies (IPN), Hereditary Spastic Paraplegia (HSP) or Strümpell-Lorrain disease, Hereditary Spinocerebellar and Cerebellar Ataxia (SCA and CA). He is on the Scientific Advisory Board for the KCNQ2 Registry, which seeks to educate and advance research, leading to treatments or a cure for patients with KCNQ2 epileptic encelphalopathy.

Roland Krause, PhD is a bioinformatician at the Luxembourg Centre for Systems Biomedicine where he supports international collaborative projects, primarily with data management and analysis. He received his PhD from the medical faculty of the university of Heidelberg.

Kevin McKenna is the Director of Informatics for several large international epilepsy research projects, including the Human Epilepsy Project, the Epi4K PCI Core, and previously the Epilepsy Phenome/Genome Project.

Catharine Freyer is a director of research at the University of California and is working on global epilepsy genetics collaboratives such as the Human Epilepsy Project, the Epi4K PCI Core, and the Epi25 Project, as well as research in stroke and patient education. With Kevin McKenna, she worked on the Epilepsy Phenome/Genome Project.