HYBRID EVENT: You can participate in person at Boston, Massachusetts, USA or Virtually from your home or work.

8th Edition of International Conference on Neurology and Brain Disorders

October 19-21, 2023

October 19 -21, 2023 | Boston, Massachusetts, USA
INBC 2017

Dennis J. Dlugos

Speaker at International Conference on Neurology and Brain Disorders 2017 - Dennis J. Dlugos
University of Pennsylvania School of Medicine, United States
Title : KCNT1 Epileptic encephalopathy– Phenotype, Genotype, Precision therapy


Epilepsy of infancy with migrating focal seizures (EIMFS) is a severe infant-onset epileptic encephalopathy, often caused by mutations in the KCNT1 gene, and standard treatments are ineffective.The cardiac anti-arrhythmic drug quinidine is a partial antagonist of KCNT1, making it a candidate drug for treatment of EIMFS. An existing in-vitro model has documented gain-of-function and quinidine responsiveness in recurring human KCNT1 mutations(Milligan C et al. Ann Neurol 2014). Since 2014, case reports of patients with EIMFS indicate asometimes dramatic, but not universal, reduction in seizures and developmental improvement following treatment with quinidine (Bearden D et al. Ann Neurol 2014; Mikati et al. Ann Neurol, 2015). An international KCNT1 registry is in place to gather structured data on EIMFS phenotypes, genotypes and treatment response.

During the presentation:

  • The phenotypic and genotypic spectrum of EIMFS and KCNT1 will be reviewed, including strategies for and importance of early diagnosis.
  • The pros and cons of quinidine use in EIMFS will be discussed, as well as steps for further study of the safety and efficacy of quinidine in EIMFSas a prototype of precision medicine in epilepsy.
  • Both unique and generalizable clinical, genetic and study design features of EIMFS-KCNT1 and other epileptic encephalopathies will be highlighted.

Audience take away:

  • The program will help clinicians more efficiently and confidently approach the diagnosis and treatment of epileptic encephalopathies in general, using EIMFS-KCNT1 as an example.
  • The program will help researchers, including drug designers, see the opportunities and challenges in the study of epileptic encephalopathies and precision medicine, using EIMFS-KCNT1 as an example.
  • The program will provide an example of the opportunities and challenges with re-purposing existing drugs for treatment of rare disorders.
  • The program will facilitate discussion of how precision medicine clinical trials in epilepsy can be designed
  • The program will facilitate discussion of managing patient and caregiver expectations in the era of potential, but unproven, precision therapy for epilepsy.


Dennis J. Dlugos, MD, is Professor of Neurology and Pediatrics in the Perelman School of Medicine at the University of Pennsylvania; and Director, Pediatric Regional Epilepsy Program at The Children’s Hospital of Philadelphia (CHOP). He received his MD from Columbia University College of Physicians and Surgeons, New York. He went on to complete his internship in Pediatrics at the National Naval Medical Center, Bethesda, Maryland; a residency in Pediatrics at Thomas Jefferson University, Philadelphia, Pennsylvania, and Alfred I. duPont Institute, Wilmington, Delaware; a residency in Neurology / Child Neurology at the University of Pennsylvania Medical Center and CHOP; and his fellowship in Epilepsy and Clinical Neurophysiology, CHOP. He is a member of the American Epilepsy Society, and serves as Chair of the Education and Professional Development Committee. Dr. Dlugos serves as Vice-President of the Epilepsy Study Consortium, which is dedicated to improving the quality of epilepsy clinical trials. His clinical and research interests include epilepsy genetics and pharmacogenetics, clinical trials, epilepsy surgery, and intensive-care EEG monitoring. Articles authored or co-authored by Dr. Dlugos have been published in Neurology, Annals of Neurology, Lancet Neurology, Epilepsia, Nature, the New England Journal of Medicine, and other journals. Dr. Dlugos has been NIH-funded since 2001, and has mentored 25 pediatric epilepsy fellows. He has lectured extensively throughout the US, in Europe and Asia.