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Treatable Cause of Refractory Seizures in an Infant with a Novel Mutation

Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a...

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Detalles Bibliográficos
Autores principales:	Mittal, Ruchi R., Manokaran, Ranjith Kumar, James, Saji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8276961/ https://www.ncbi.nlm.nih.gov/pubmed/34316313 http://dx.doi.org/10.4103/jpn.JPN_68_20

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