Clinical Reasoning: Pediatric Seizures of Unknown Cause.
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DOI: 10.1212/wnl.0000000000200711
Abstract: We describe a neonate and a 14-month-old child presenting with seizures that were not (completely) controlled with anti-epileptic medications. There were no signs of infection and electrolytes and neuro-imaging were normal. In the neonate, pyridoxine… read more here.
Keywords: diagnosis; pde aldh7a1; seizures unknown; unknown cause ... See more keywords
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
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DOI: 10.3390/ijms232416061
Abstract: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are… read more here.
Keywords: novel biomarkers; dependent epilepsy; pde aldh7a1; global metabolomics ... See more keywords