title: Metabolic and monogenic causes of seizures in neonates and young infants.
abstract: Seizures in neonates or young infants present a frequent diagnostic challenge. After exclusion of acquired causes, disturbances of the internal homeostasis and brain malformations, the physician must evaluate for inborn errors of metabolism and for other non-malformative genetic disorders as the cause of seizures. The metabolic causes can be categorized into disorders of neurotransmitter metabolism, disorders of energy production, and synthetic or catabolic disorders associated with brain malformation, dysfunction and degeneration. Other genetic conditions involve channelopathies, and disorders resulting in abnormal growth, differentiation and formation of neuronal populations. These conditions are important given their potential for treatment and the risk for recurrence in the family. In this paper, we will succinctly review the metabolic and genetic non-malformative causes of seizures in neonates and infants less than 6 months of age. We will then provide differential diagnostic clues and a practical paradigm for their evaluation.
authors.affiliation: Department of Pediatrics, University of Colorado, Clinical Genetics, Aurora, CO 80045, USA. Johan.Vanhove@ucdenver.edu
authors.forename: Johan L K
authors.initials: JL
authors.lastname: Van Hove
authors.forename: Naomi J
authors.initials: NJ
authors.lastname: Lohr
mesh_terms: D001921:Brain / Q000503:physiopathology*; D053447:Channelopathies / Q000150:complications / Q000235:genetics*; D003937:Diagnosis, Differential; D004734:Energy Metabolism / Q000502:physiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D055495:Neurogenesis / Q000235:genetics*; D018377:Neurotransmitter Agents / Q000378:metabolism*; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics / Q000378:metabolism
chemical_list: D018377:Neurotransmitter Agents