A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy
European Journal of Paediatric Neurology(2016)
摘要
Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three genes are known to cause NKH.
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关键词
Early myoclonic encephalopathy,Nonketotic hyperglycinemia,AMT gene mutations,Burst-suppression,Massive myoclonus,Tonic spasms
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