title: Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group.
abstract: OBJECTIVE
  We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types.
  
  
  METHODS
  Subjects were prospectively recruited from children with epilepsy who satisfied the following criteria and underwent intensive examination between 2009 and 2012 in 14 collaborative centers: (1) younger than 6years old and (2) more than 10 seizures/month refractory to all available medical treatments including ACTH therapy, leading to significant psychosocial morbidity.
  
  
  METHODS
  We analyzed epilepsy onset age, predominant seizure type, etiology, neuropsychological findings, and syndromic classification according to the pre-determined registration format.
  
  
  RESULTS
  A total of 314 children were enrolled in this study. Epilepsy onset age in 239 cases (80%) was younger than 12months. The most frequent seizure type was epileptic spasms (ES), followed by generalized tonic seizures (GTS), which accounted for 42% and 20%, respectively. West syndrome (WS) was the most frequent epileptic syndrome and accounted for 37%, followed by unclassified epilepsy at 21%, neocortical epilepsy at 19%, Lennox-Gastaut syndrome at 12%, Dravet syndrome at 4%, Rasmussen syndrome at 2%, and others. The two most frequent causes of epilepsy were cortical dysplasia and chromosomal anomalies, as shown in 16% and 6%, respectively. However, the etiology of nearly one half of all patients remained unknown. Psychomotor development was already worse than a moderate degree in 62% of subjects at the first examination.
  
  
  CONCLUSIONS
  The highest proportion of catastrophic epilepsy was WS and its related syndromes featuring ES and GTS, followed by neocortical epilepsy, whose psychomotor development was significantly retarded at examinations.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. hoguni@ped.twmu.ac.jp
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Taisuke
authors.initials: T
authors.lastname: Otsuki
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Yushi
authors.initials: Y
authors.lastname: Inoue
authors.forename: Eiji
authors.initials: E
authors.lastname: Watanabe
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Akio
authors.initials: A
authors.lastname: Takahashi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Shigeki
authors.initials: S
authors.lastname: Kameyama
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Hamano
authors.forename: Koichi
authors.initials: K
authors.lastname: Baba
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Baba
authors.forename: Seung-Chyul
authors.initials: SC
authors.lastname: Hong
authors.forename: Heung-Dong
authors.initials: HD
authors.lastname: Kim
authors.forename: Hoon-Chul
authors.initials: HC
authors.lastname: Kang
authors.forename: Guoming
authors.initials: G
authors.lastname: Luan
authors.forename: Tai-Tong
authors.initials: TT
authors.lastname: Wong
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000503:physiopathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male
keywords: Catastrophic epilepsy; Classification; Epilepsy surgery; Etiology; West syndrome; Young children