Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2018
de Rooy R L P, Halbertsma F J, Struijs E A, van Spronsen F J, Lunsing R J, Schippers H M, van Hasselt P M, Plecko B, Wohlrab G, Whalen S, Benoist J F, Valence S, Mills P B, Bok L A
Abstract excerpt
AIM: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. METHODS: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to...
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