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Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 5 ¦ September-October 2021 770 Pyridoxine‐dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents with intractable… Click to show full abstract
Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 5 ¦ September-October 2021 770 Pyridoxine‐dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents with intractable seizures in the neonatal period that are unresponsive to conventional anti‐epileptic treatments.[1] It is caused by a deficiency of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) and generally affects neonates or infants.[2] A wide range of mutations has been described in patients with PDE.[3] Herein, we will describe two siblings, who were diagnosed with PDE in adolescence. We believe that this is an interesting condition, emphasizing that PDE should also be kept in mind in older children.
Journal Title: Annals of Indian Academy of Neurology
Year Published: 2021
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