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Genetic Epilepsy
SPECIAL INTEREST GROUP
The Genetics Special Interest Group (SIG) focuses on genetically-mediated epilepsies with an interest in:
Identifying and characterizing patients with or without epilepsy who have known or potentially causative variants in genes associated with epilepsy
Examining patterns and yield of genetic testing
Facilitating multi-institutional collaborative studies into genetic epilepsy
Enabling excellent comprehensive medical care for patients with genetic epilepsy across the country
Our group meets on the second Monday of the month at 1 pm EST.
Sig leader
John Schreiber, MD
Children’s National Medical Center
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John M. Schreiber, M.D., Associate Professor of Neurology and Pediatrics, graduated cum laude from University of Maryland School of Medicine in 2006. While there, he won the Marshall L. Rennels Award for Excellence in Neuroscience and was a member of AOA and the Gold Humanism Honor Society. He completed pediatrics and child neurology training at Children’s National in 2011.
Before returning to Children's National and Pediatric Specialists of Virginia (PSV) in 2013, he served as an epilepsy and clinical neurophysiology fellow at the National Institutes of Health (NIH) and volunteered as a child neurology consultant for the Undiagnosed Diseases Program there. He is the principal investigator at Children's National in our Neurogenetics Registry protocol, for the multi-disciplinary SCN8A Encephalopathy clinic, in a protocol examining cardiac strain in patients with status epilepticus or medically refractory epilepsy and is the site principal investigator for several clinical trials in epilepsy.
His primary clinical and research interests are in the evaluation and management of epilepsy, specifically in rare genetically-mediated epilepsies and in epilepsy surgery. He established and directs the Epilepsy Genetics program at Children's National, the Refractory Epilepsy Clinic at PSV and serves as the medical director of electroencephalography for Children's National.
Dr. Schreiber also volunteers in community service projects, lectures/panels, support groups and national committees. He serves on the advisory board for several rare disease organizations and the Epilepsy Foundation. He leads the Genetics group in the Pediatric Epilepsy Research Consortium, is on the PERC board of directors, has authored over 35 peer-reviewed journal articles and chapters and has been a reviewer for 11 different medical journals.