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Genetics: Myoclonic Epilepsy of Infancy

Course Description | Faculty | Accreditation | General Information

Course Description

Acknowledgement: This online activity is supported by educational grants from Celera and the Applera Charitable Foundation.

This CME activity follows a 20-month-old girl with febrile and afebrile seizures. Her clinical presentation and diagnostic workup is most consistent with Severe Myoclonic Epilepsy of Infancy (SMEI), also known as Dravet syndrome. The most common cause of SMEI is mutation in the SCN1A gene (one of a cluster of sodium channel genes localized to chromosome 2q24), which have been detected in 35% to 100% of subjects in different series. The clinical presentation of SMEI (and how it changes over time) and the use of molecular testing in its diagnosis are addressed in this module.

Original Release: 6/15/2010
Most Recent Update: 9/11/2014
Termination Date: 9/11/2017

NUMBER OF CREDIT HOURS: The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

COST: COST: $25.00

OVERALL LEARNING OBJECTIVES:

  1. Recognize the clinical presentation(s) caused by mutations in the alpha subunit sodium channel SCN1A.
  2. Describe the genetic basis of Dravet syndrome, GEFS+ and FHM3.
  3. Understand the molecular mechanism of epilepsy caused by sodium channel mutations.
  4. Understand the recurrence risk and risk to other family members.
  5. Discuss the potential implications for treatment.

METHOD OF PARTICIPATION:

Registrants participate in the learning process by answering interactive multiple choice questions that are dispersed throughout the case presentation. You must answer a question correctly in order to continue through the course. If you answer a question incorrectly, you will be prompted to try again.

In order to earn credit, physicians must complete the entire educational activity before the termination date (see above). Non-physicians may register for the course but are not eligible for AMA PRA Category 1 Credits™. Instead, non-physicians will earn a certificate of participation after successfully completing the course before its termination date.

COMBINATION OF MEDIA USED:

This internet enduring material is a case-based, interactive presentation comprised mainly of text, interactive questions, and images. A variety of media, including video clips, audio clips, and Flash animation, may be presented. Links to any necessary plugins are provided when necessary, but no plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.

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Faculty
FUKI M. HISAMA, MD
Course Co-Director
Dr. Hisama is Director of Clinical Genetics at the University of Washington Medical Center and Associate Professor of Medicine (Genetics) and Neurology at the University of Washington and a member of the Northwest Institute of Genetic Medicine . She completed medical school at the University of Chicago, did an internship at Northwestern University Medical Center, and completed Neurology Residency, and Medical Genetics training at Yale University. She was on the faculty of Yale School of Medicine and Harvard Medical School before accepting her current position. She gave a keynote lecture at the 2009 American Academy of Neurology Meeting on the Current State of Neurogenetics in the U.S.

DISCLOSURE:
Speaker on cardiac genetics with Medtronic (payment made to the University of Washington).



RAJU KUCHERLAPATI, PhD
Course Co-Director
Raju Kucherlapati, Ph.D. is the Scientific Director of the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG) and the Paul C. Cabot Professor of Genetics and Professor of Medicine at Harvard Medical School (HMS). He is the first Scientific Director of HPCGG.

Dr. Kucherlapati was a member of the consortium to map and sequence the human and mouse genomes. His research interests are in the areas of discovery and characterization of human disease genes using a combination of human and mouse genetic and genomic approaches. He was a member of the National Advisory Council for Human Genome Research at the National Human Genomics Research Institute, co-chair of the steering committee for the National Cancer Institute’s Mouse Models for Human Cancer Consortium and served on the editorial board of the New England Journal of Medicine and was editor in chief of the journal Genomics. He is a fellow of the American Association for the Advancement of Science (AAAS).

DISCLOSURE:
Reported no relevant financial relationships with commercial entities



EDWARD J. NOVOTNY, MD
Course Co-Director
Dr. Novotny is Director of Pediatric Epilepsy at Seattle Children's Hospital, and Professor of Neurology and Pediatrics at the University of Washington. He completed medical school at St. Louis University School of Medicine, did Pediatrics Residency at University of California at Davis, Neurology Residency and Epilepsy Fellowship at Stanford, and Magnetic Resonance Spectroscopy Fellowship at Yale. He was Director of Pediatric Epilepsy and Associate Professor of Pediatrics, Neurology and Neurosurgery at Yale prior to accepting his current position.

DISCLOSURE:
Reported no relevant financial relationships with commercial entities.



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Reviewers
FRANK DOMINO, MD
Reviewer
Dr. Frank J. Domino is an Associate Professor and Family Medicine Clerkship Director at the University of Massachusetts Medical School. He was the Associate Editor for Family Medicine to the Up To Date medical database, and is currently the Editor in Chief of Lippincott, Williams and Wilkins’ "5 Minute Clinical Consult" series.

Dr. Domino’s major areas of focus include educating all levels of learners (students, graduate and post graduate) in a variety of subjects including Evidence Based Medicine, Sports Medicine, and common ambulatory controversies (Vitamin D Deficiency, Medical Ethics, Non-Pharmacologic Treatment of Depression and Anxiety). Dr. Domino’s areas of faculty development training include Problem Solving, Needs Assessment, Ambulatory Medical Ethics, Presentation Skills, and Fluency/Professional Development in the Medical Literature.

Dr. Domino has received numerous teaching awards, including multiple Outstanding Medical Educator Awards and the Outstanding Achievement "Star" Award for Curricular Contribution to the University of Massachusetts Medical School. Dr. Domino is the Family Medicine representative to Harvard Medical School’s Continuing Medical Education program "Current Clinical Issues in Primary Care" Pri-Med committee as well as the University of Massachusetts Medical School’s Continuing Education Committee. He is a regular contributor to and holds an appointment in the Community Faculty Development Center at the University of Massachusetts. His areas of clinical research include Vitamin D Deficiency, and the translation of medical research into practice.

DISCLOSURE:
Wolters Kuhler Publishing, Editor in Chief, 5 Minute Clinical Consult, Primary Care Medicine; no direct financial payment RxPalm, Incl., President; Medical Editing company



EVAN FERTIG, MD
Reviewer
Dr. Evan Fertig is an assistant clinical professor of neurology at Yale University School of Medicine and Touro University College of Medicine. He is the Co-Director of the Comprehensive Epilepsy Program at Jersey City Medical Center and is an epileptologist for the Northeast Regional Epilepsy Group.

DISCLOSURE:
Pfizer: Research Grant Recipient



DAVID LYNCH, MD
Reviewer
A native of Houston, Texas, Dr Lynch graduated summa cum laude from Yale University with a degree in Molecular Biophysics and Biochemistry. He received his MD and PhD degrees from the Johns Hopkins University School of Medicine, with specialization in Neuroscience. He came to the University of Pennsylvania as a Neurology resident in 1988 and has worked as postdoctoral fellow and faculty member at both CHOP and the University since 1992. His basic science work focuses on receptors involved in learning. His clinical specialization is in rare genetic disease of the nervous systems, particularly those beginning in childhood and continuing throughout life.

DISCLOSURE:
Reported no relevant financial relationships with commercial entities.



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Course Planners
SANJIV CHOPRA, MD
Planner
Dr. Sanjiv Chopra is Professor of Medicine at Harvard Medical School. He is also the the James Tullis Firm Chief in the Department of Medicine and a Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. He served as Faculty Dean for Continuing Education at HMS for 12 years. Dr. Chopra has more than 150 publications and seven books to his credit. Dr. Chopra is Editor-in-Chief of the Hepatology Section of UpToDate, the most widely used electronic textbook in the world subscribed to by more than 850,000 physicians in 149 countries. He is also the recipient of numerous awards and accolades. For a complete bio, click here.

DISCLOSURE:
Reported no relevant financial relationships with commercial entities



ERIN HARVEY, MSC, CGC
Planner
Erin K. Harvey, MSc, CGC, was the Assistant Director of Education for Partners Healthcare Center for Personalized Genetic Medicine (PCPGM) from 2008 to 2011. She is a board-certified genetic counselor and has worked with a wide range of primary healthcare professionals in the development of genetics-related, case-based continuing medical education (CME). In addition to being the series editor for PCPGM’s genetics CMEs, she coordinated an advanced human genetics course for Harvard Medical School’s Clinical Genetics Residency training program. In 2011, she accepted a position with Genzyme as a Scientific Communications Principal for the Personalized Genetic Health division. Prior to joining PCPGM, Ms. Harvey spent five years with the National Coalition for Health Professional Education in Genetics, and was seconded for one year to the United Kingdom to help a similar organization there – the National Genetics Education and Development Centre – create genetics resources for the UK’s nationalized medical education curriculum. Ms. Harvey received her master’s degree in science in 2003 from the Johns Hopkins University/National Institutes of Health joint genetic counseling training program. She received a B.A. in English Writing from St. Edward’s University in Austin, Texas in 1993, and worked as a journalist prior to pursuing a career in the biological sciences.

DISCLOSURE:
Reported no relevant financial relationships with commercial entities



ANDI LONG, EdM
Planner
Andi Long directs the Department of Continuing Education’s Distance Learning group, which offers a variety of online continuing medical education programs to health care professionals around the world. Andi develops strategies for new pilot programs and systematically rolls out new distance learning initiatives and has a leadership role in IT planning and other online processes for HMS DCE. She oversees the day-to-day operations of each distance learning activity and ensures ACCME compliance across all enduring programs. She has had the privilege of working with hundreds of Harvard Medical School Faculty members to develop high-quality, engaging online programs that physicians in more than 170 countries have taken part in. Andi earned her Ed.M. in Technology, Innovation, and Education from Harvard Graduate School of Education and graduated from Bridgewater State College with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development.

DISCLOSURE:
Reported no relevant financial relationships with commercial entities



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Accreditation

NUMBER OF CREDITS: 1 

The Harvard Medical School is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

Within 2 weeks of completing the course, you will receive your certificate via email.

Click the image to view a sample of the certificate


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General Information

HARDWARE/SOFTWARE REQUIREMENTS

Computers
Any computer running Windows, Mac OS, or Unix machines are supported.


Internet Connection
Your computer should be configured to access the Internet. A high speed internet connection may be required to view some of the large multimedia files.

Browsers
Firefox or Internet Explorer 5.5 or higher are recommended. JavaScript and cookies must be enabled.

Plugins
Some of the multimedia resources in this course require Apple Quicktime, RealMedia, or a Flash player. You will be prompted to download the appropriate plugin when necessary. No plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.


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