A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

This publication has 11 references indexed in Scilit:

• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
  Nature Genetics, 1998
• Integrated physical and transcript map of 5q31.3-qter
  European Journal of Human Genetics, 1998
• A comprehensive genetic map of the human genome based on 5,264 microsatellites
  Nature, 1996
• Glutamate in Pyridoxine-Dependent Epilepsy: Neurotoxic Glutamate Concentration in the Cerebrospinal Fluid and Its Normalization by Pyridoxine
  Pediatrics, 1994
• Strategies for multilocus linkage analysis in humans.
  Proceedings of the National Academy of Sciences, 1984
• Vitamin B ₆ ‐dependent seizures
  Neurology, 1978
• Vitamin B6-Dependency of Glutamic Acid Decarboxylase in the Kidney from a Patient with Vitamin B6 Dependent Convulsion
  The Tohoku Journal of Experimental Medicine, 1971
• GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B₆ DEPENDENCY WITH SEIZURES*
  Annals of the New York Academy of Sciences, 1969
• SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS
  Pediatrics, 1963
• PYRIDOXINE DEPENDENCY: REPORT OF A CASE OF INTRACTABLE CONVULSIONS IN AN INFANT CONTROLLED BY PYRIDOXINE
  Pediatrics, 1954