PCDH19-related female-limited epilepsy
Other Names for this Disease
- Epilepsy and mental retardation limited to females
- Epilepsy, female restricted, with mental retardation
- Epileptic encephalopathy, early infantile, 9
News & Events
ORDR Co-Sponsored Conferences
The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015 - Wednesday, June 10, 2015
Location: NIH Natcher Conference Center, Bethesda, MD
Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.
2014 Mechanisms of Epilepsy and Neuronal Synchronization Gordon Research Conference, Sunday, August 17, 2014 - Friday, August 22, 2014
Location: Mount Snow Resort, West Dover, VT
Description: <p>The main goal of the study of epilepsy is to identify the causes and complex mechanisms that underlie the abnormal, synchronous, electrical discharges that occur in hyperexcitable neuronal networks during seizures. How these basic science findings can someday be translated into new therapies for the nearly 3 million Americans suffering with epilepsy is another long-term goal. A unique, intellectually challenging aspect of epilepsy research arises from the fact that it encompasses virtually all major levels of biological organization, from circuits and behavior to stem cells and neurodevelopment. Thus a major purpose of this Gordon Research Conference is to bring together geneticists, molecular biologists, developmental neuroscientists, neuroanatomists, electrophysiologists, clinician-scientists and computational neuroscientists working on basic mechanisms related either directly or indirectly to seizure generation to synthesize current advances and to set the stage for future discoveries.</p>
RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.