Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...

Descripció completa

Dades bibliogràfiques

Autors principals:	B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2016-03-01
Col·lecció:	Molecular Genetics and Metabolism Reports
Matèries:	PNPO Pyridoxine Neonatal Epilepsy Pyridoxal-phosphate Antiquitin
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2214426916300040
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!