title: Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
authors.affiliation: Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel, Switzerland. patricia.dill@ukbb.ch
authors.forename: P
authors.initials: P
authors.lastname: Dill
authors.forename: M
authors.initials: M
authors.lastname: Wagner
authors.forename: A
authors.initials: A
authors.lastname: Somerville
authors.forename: B
authors.initials: B
authors.lastname: Thöny
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: P
authors.initials: P
authors.lastname: Weber
mesh_terms: D006916:5-Hydroxytryptophan / Q000627:therapeutic use; D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D001519:Behavior; D001545:Benserazide / Q000627:therapeutic use; D003241:Consanguinity; D002658:Developmental Disabilities / Q000188:drug therapy / Q000503:physiopathology*; D015259:Dopamine Agents / Q000627:therapeutic use; D004338:Drug Combinations; D005133:Eye Movements / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use; D009069:Movement Disorders / Q000209:etiology; D009123:Muscle Hypotonia / Q000209:etiology; D009422:Nervous System Diseases / Q000188:drug therapy / Q000503:physiopathology*; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D015259:Dopamine Agents; D004338:Drug Combinations; D018377:Neurotransmitter Agents; C005177:benserazide, levodopa drug combination; D007980:Levodopa; D001545:Benserazide; D006916:5-Hydroxytryptophan; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase