Concepedia

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency

Bernhard Schmitt, Matthias R. Baumgartner, Philippa B. Mills, Peter T. Clayton, Cornelis Jakobs, Elmar Keller, Gabriele Wohlrab

Developmental Medicine & Child Neurology · 2010 · 107 citations · 21 references

DOIFull text

Open access

Abstract

PDE or PNPO should be considered in infants with prolonged episodes of mixed multifocal myoclonic tonic symptoms, notably when associated with grimacing and abnormal eye movements.

References

21

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 542 citations

, , +3

Characterization and classification of neonatal seizures

Eli M. Mizrahi, Peter Kellaway · Neurology · 1987 · 485 citations

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Philippa B. Mills, Robert Surtees, M. P. Champion et al. · Human Molecular Genetics · 2005 · 307 citations · Full text

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Renata C. Gallagher, Johan L.K. Van Hove, Gunter Scharer et al. · Annals of Neurology · 2009 · 185 citations

Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Georg F. Hoffmann, Bernhard Schmitt, Marisa Windfuhr et al. · Journal of Inherited Metabolic Disease · 2006 · 137 citations · Full text