title: Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy.
authors.forename: F
authors.initials: F
authors.lastname: Pérez Errazquin
authors.forename: J
authors.initials: J
authors.lastname: Sempere Fernández
authors.forename: G
authors.initials: G
authors.lastname: García Martín
authors.forename: M I
authors.initials: MI
authors.lastname: Chamorro Muñoz
authors.forename: M
authors.initials: M
authors.lastname: Romero Acebal
mesh_terms: D000293:Adolescent; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D006946:Hyperinsulinism / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D007003:Hypoglycemia / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D009154:Mutation
chemical_list: D005969:Glutamate Dehydrogenase; C561840:GLUD1 protein, human