Spector E

Latest

• 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
• Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.