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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pyridoxal 5'-phosphate-dependent epilepsy


Other Names for this Disease
  • PNPO Deficiency
  • PNPO-related neonatal epileptic encephalopathy
  • Pyridoxal phosphate-dependent seizures
  • Pyridoxal phosphate-responsive seizures
  • Pyridoxamine 5-oxidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • Neurobiology of Disease in Children Conferences, Wednesday, October 07, 2015 - Thursday, October 08, 2015
    Location: Washington, DC
    Description: The topic for the 2015 NDC Symposium is Epileptic Encephalopathy. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015
    Location: Building 31, 6C, Room 6, 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.

  • American Society of Gene & Cell Therapy (ASGCT) 18th Annual Meeting, Wednesday, May 13, 2015 - Saturday, May 16, 2015
    Location: New Orleans, LA
    Description: From our plenary lectures, this year to be given by Drs. Steven Rosenberg and Anthony Atala, to our 19 scientific symposia featuring invited speakers from across our discipline, to our nightly abstract poster receptions, where the majority of the over 700 abstracts submitted to the Annual Meeting are presented, the ASGCT Annual Meeting is certain to be the premiere scientific meeting in our field.

  • 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.

Other Names for this Disease
  • PNPO Deficiency
  • PNPO-related neonatal epileptic encephalopathy
  • Pyridoxal phosphate-dependent seizures
  • Pyridoxal phosphate-responsive seizures
  • Pyridoxamine 5-oxidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.