Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.

@article{Mefford2012EpilepsyDT,
  title={Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.},
  author={Heather C. Mefford and Joseph A. Cook and Sidney M. Gospe},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 12},
  pages={3190-5}
}
A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Since the discovery of molecular basis of this disorder, a few patients have been reported with a similar clinical phenotype but without evidence of antiqutin dysfunction. We report on a patient who had carried a clinical diagnosis of PDE for 7… CONTINUE READING

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