A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period. A case of a 4-month-old female patient presented to our hospital with status epilepticus. Her...

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Bibliographic Details
Main Authors: Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat
Format: Article
Language:English
Published: Galenos Yayinevi 2019-04-01
Series:Journal of Pediatric Emergency and Intensive Care Medicine
Subjects:
Online Access: http://www.caybdergi.com/archives/archive-detail/article-preview/a-case-of-pyridoxine-dependent-epilepsy-presented-/26114