Swanson MA

Latest

• Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
• The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
• The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
• Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
• Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
• Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
• Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
• Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.