title: A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
abstract: 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. Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected.
authors.affiliation: Neurology Unit, S. Anna Hospital, Como, Italy. Electronic address: vincenzobelcastro@libero.it.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Belcastro
authors.affiliation: Neonatology Unit, S. Anna Hospital, Como, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Barbarini
authors.affiliation: Pediatric Unit, S. Anna Hospital, Como, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Barca
authors.affiliation: Neonatology Unit, S. Anna Hospital, Como, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Mauro
mesh_terms: D050960:Aminomethyltransferase / Q000235:genetics*; D004569:Electroencephalography; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D050960:Aminomethyltransferase
keywords: AMT gene mutations; Burst-suppression; Early myoclonic encephalopathy; Massive myoclonus; Nonketotic hyperglycinemia; Tonic spasms