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Results 1 - 7 of 7 for "Pyridoxine-dependent" epilepsy
  1. Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged ...
  2. ... the ALDH7A1 gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific to single ... as Glu399Gln or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A shortage (deficiency) ...
  3. Epilepsy (National Library of Medicine)  
    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out ...
  4. ... seen in people with PNPO deficiency. These include pyridoxine-dependent epilepsy caused by changes in the ALDH7A1 gene and ...
  5. Seizures (National Library of Medicine)  
    Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often ...
  6. ... IV controls seizures caused by a condition called pyridoxine-dependent epilepsy. IV products can only be given by a ...
  7. ... Pulmonary Hypertension Association PVNH Support & Awareness PXE International Pyridoxine-Dependent Seizures Registry Rare Anemias Foundation RASopathies Network Raynaud's & ...