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 CASE REPORT
Year : 2021  |  Volume : 16  |  Issue : 1  |  Page : 69-70

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


1 Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
2 Department of Paediatric Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Ranjith Kumar Manokaran
Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, No. 1, Ramachandra Nagar, Porur, Chennai 600116, Tamil Nadu.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_68_20

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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.






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