title: Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
abstract: OBJECTIVE
  Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients.
  
  
  METHODS
  All patients diagnosed as MD in our hospital, seven males, were included in this study. Their medical records and EEG findings were reviewed retrospectively.
  
  
  RESULTS
  All male patients had developmental delay/regression with hypotonia, and the appearance of their hair and skin was characteristic of MD. A recurrent missense mutation was found in two patients. Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced anticonvulsant-resistant seizures. EEGs in focal seizures usually revealed interictal focal epileptiform discharges over the posterior region without focal slowing. This was followed by modified hypsarrhythmia with less polymorphic background activity in spasms and anteriorly dominant diffuse slowing with generalized and multifocal epileptiform discharges in myoclonic or generalized tonic seizures. Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity.
  
  
  CONCLUSIONS
  G727R missense mutation may be relatively common in Korea, as in other countries. There was no clear correlation of genotype with phenotype, even in epilepsy and EEG abnormalities.
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea.
authors.forename: Jin Sook
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea.
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea.
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.affiliation: Department of Radiology, Seoul National University College of Medicine, South Korea.
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Cheon
authors.affiliation: Department of Radiology, Seoul National University College of Medicine, South Korea.
authors.forename: In-One
authors.initials: IO
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, South Korea.
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, South Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. Electronic address: chaeped1@snu.ac.kr.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D056910:Republic of Korea; D012189:Retrospective Studies
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7A mutation; Epilepsy; Genotype and phenotype; Menkes disease