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Genetic and Rare Diseases Information Center (GARD)

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Pyridoxine-dependent epilepsy


Other Names for this Disease

  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.[1]
Last updated: 7/23/2013

References

  1. Pyridoxine-dependent epilepsy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition=pyridoxinedependentepilepsy. Accessed 7/23/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pyridoxine-dependent epilepsy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pyridoxine-dependent epilepsy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.