Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report
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Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable... ...
