Article
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Metabolic brain disease - 1 Apr 2017
Al Teneiji Amal, Bruun Theodora U J, Cordeiro Dawn, Patel Jaina, Inbar-Feigenberg Michal, Weiss Shelly, Struys Eduard, Mercimek-Mahmutoglu Saadet
Abstract excerpt
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). We developed a clinical severity score to compare phenotype with biochemical features, genotype and delays in the initiation of pyridoxine. Clinical severity score included 1) global developmental delay/ intellectual disability; 2) age of seizure onset prior to pyridoxine; 3)...
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