Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect – First case report from Pakistan and review of literature

Medicine & Life Sciences

• Phosphate-Binding Proteins 100%
• Pyridoxal Phosphate 75%
• Vitamin B 6 71%
• Pakistan 64%
• Epilepsy 47%
• Seizures 27%
• Pyridoxine 19%
• pyridoxamine phosphate 12%
• Genes 8%
• Whole Exome Sequencing 8%
• Mutation 7%
• Vitamins 7%
• Secondary Prevention 6%
• Oxidoreductases 6%
• Differential Diagnosis 5%
• Parents 5%
• Parturition 4%
• Therapeutics 4%