A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
作者： Vincenzo Belcastro , Mario Barbarini , Salvatore Barca , Isabella Mauro
DOI: 10.1016/J.EJPN.2015.08.008
关键词:
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 genetic testing confirms diagnosis NKH around 75% patients clinical NKH. Three genes are known to Here we describe case caused by which new mutation aminomethyltransferase (AMT) gene has been detected.
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