Pyridoxine-Responsive Epilepsy Due to Molybdenum Cofactor 2 (MOCS2) Deficiency

Abstract While it is common practice to consider pyridoxine responsiveness in refractory neonatal seizures as pyridoxine dependency, other causes of pyridoxine responsiveness also exist. Awareness of these conditions is essential, as early diagnosis and genetic testing facilitate effective genetic counseling. Herein, we present a child with pyridoxine-responsive epilepsy due to molybdenum cofactor deficiency.

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Publication Details

Journal
International Journal of Epilepsy
Published
2026-11-02
DOI
https://doi.org/10.1055/s-0046-1829875
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

Pyridoxine-Responsive Epilepsy Due to Molybdenum Cofactor 2 (MOCS2) Deficiency

Leema Pauline Cornelius, Neeraj Elango, Jered L. Kanakaraj
International Journal of Epilepsy
Metabolism and Genetic Disorders
article

Pyridoxine-Responsive Epilepsy Due to Molybdenum Cofactor 2 (MOCS2) Deficiency

Leema Pauline Cornelius, Neeraj Elango, Jered L. Kanakaraj
article en

Abstract

Abstract While it is common practice to consider pyridoxine responsiveness in refractory neonatal seizures as pyridoxine dependency, other causes of pyridoxine responsiveness also exist. Awareness of these conditions is essential, as early diagnosis and genetic testing facilitate effective genetic counseling. Herein, we present a child with pyridoxine-responsive epilepsy due to molybdenum cofactor deficiency.

International Journal of Epilepsy
Madras Medical College (IN)
Good health and well-being
Openalex Percentile: Top 15%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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Pyridoxine-Responsive Epilepsy Due to Molybdenum Cofactor 2 (MOCS2) Deficiency — Leema Pauline Cornelius, Neeraj Elango, et al. · International Journal of Epilepsy (2026) | TGRS Research Map | TGRS