Back to Search
Start Over
Treatable cause of refractory seizures in an infant with a novel mutation
- 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.
- Subjects :
- medicine.diagnostic_test
business.industry
General Neuroscience
pyridoxine-dependent epilepsy
PNPO
Magnetic resonance imaging
Case Reports
refractory epilepsy
Gene mutation
medicine.disease
Bioinformatics
Pyridoxine
PROSC
Epilepsy
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
medicine
business
Pyridoxine-dependent epilepsy
Exome sequencing
medicine.drug
Subjects
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