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Treatable cause of refractory seizures in an infant with a novel mutation

Authors :
Saji James
Ruchi R Mittal
Ranjith Kumar Manokaran
Source :
Journal of Pediatric Neurosciences
Publication Year :
2021
Publisher :
Medknow, 2021.

Abstract

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 novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.

Details

ISSN :
18171745
Volume :
16
Database :
OpenAIRE
Journal :
Journal of Pediatric Neurosciences
Accession number :
edsair.doi.dedup.....35734d54d2ae45f13709745158ee511a
Full Text :
https://doi.org/10.4103/jpn.jpn_68_20