Andika Priamas Nugrahanto, Agung Triono, Neti Nurani, Kristy Iskandar, Dian Kesumapramudya Nurputra, Irma Sri Hidayati, Elisabeth Siti Herini
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引用次数: 0
Abstract
Pyridoxine-dependent epilepsy (PDE) is a rare genetic metabolic disorder characterized by seizures that are often resistant to conventional antiseizure medication but responsive to pyridoxine. Although its early diagnosis and treatment are crucial for achieving optimal neurodevelopmental outcomes, resource-limited settings often present considerable challenges in recognizing and managing this complex condition. This case report describes the diagnostic and management experience of the first genetically confirmed case of PDE in an Indonesian neonate, highlighting the critical need to improve access to specialized care and resources in this setting. Our data may provide valuable insights into the unique hurdles and potential solutions for managing PDE in similar settings.
期刊介绍：
Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry.
All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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