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

Year: 2026

Type: article

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.

Source: International Journal of Epilepsy

DOI: 10.1055/s-0046-1829875

Authors: Leema P. Cornelius, Neeraj Elango, Jered L. Kanakaraj

Institution: Madras Medical College

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7225123269

FWCI:

Cites: 8

Cited by:

Related to: 10