title: Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency.
authors.affiliation: Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
authors.forename: Madhusoothanan B
authors.initials: MB
authors.lastname: Perumal
authors.forename: Stjepana
authors.initials: S
authors.lastname: Kovac
authors.forename: Alexander
authors.initials: A
authors.lastname: Shah
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wood
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Sofia
authors.initials: S
authors.lastname: Eriksson
authors.forename: Matthew
authors.initials: M
authors.lastname: Walker
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D053840:Brugada Syndrome / Q000150:complications / Q000235:genetics; D006970:Disorders of Excessive Somnolence / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics; D017286:Polysomnography; D011680:Pupil; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis*; D012025:Reflex, Pupillary / Q000235:genetics
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D000659:AMP Deaminase