title: [Clinical analysis of families with generalized epilepsy with febrile seizures plus].
abstract: OBJECTIVE
  To investigate the clinical phenotypes and hereditary patterns of the generalized epilepsy with febrile seizures plus (GEFS+).
  
  
  METHODS
  Detailed family trees were constructed by inquire and physical examinations for the probands of the 15 pedigrees of GEFS+. Some patients received electroencephalography, cranial CT or MRI examination. The seizures and epilepsy syndromes were classified according to the 2001 Seizure International Classification. The clinical data of GEFS+ were reviewed.
  
  
  RESULTS
  The 15 families consisted of 196 individuals. Seventy-five individuals were confirmed with epilepsy. The phenotypes of 64 out of the 75 patients with epilepsy conformed to GEFS+. The 64 patients included 38 males and 26 females (1 deceased) and there was no gender difference in the morbility of GEFS+. The age at onset was all in childhood. GEFS+ had a diversity of phenotypes. Febrile seizures (FS) were confirmed in 44 patients, FS and myoclonic seizure in 1, febrile seizures plus (FS+) in 13, FS+ and absence seizure in 2, FS+ and myoclonic seizure in 1, and FS+ and focal seizure in 3.
  
  
  CONCLUSIONS
  The heterogeneity of phenotypes and genetics may be the hallmarks of GEFS+. FS and FS+ are common phenotypes while FS+ and absence seizure, FS+ and myoclonic seizure, and FS+ and focal seizure are rare. If one of the parents is affected in a GEFS+ family, the susceptibility of their children to GEFS+ is the same no matter what gender of their children is. It is speculated that the hereditary pattern of GEFS+ conforms to autosomal dominant inheritance.
authors.affiliation: Department of Neurology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Mei-Jing
authors.initials: MJ
authors.lastname: Xi
authors.forename: Xi-Shun
authors.initials: XS
authors.lastname: Huang
authors.forename: Jian-Ke
authors.initials: JK
authors.lastname: Wei
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
authors.forename: Yan-Jie
authors.initials: YJ
authors.lastname: Jia
authors.forename: Xiu-Hong
authors.initials: XH
authors.lastname: Chamg
authors.forename: Zi-Ying
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Yu-Xiang
authors.initials: YX
authors.lastname: Fan
authors.forename: Lei
authors.initials: L
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D003294:Seizures, Febrile / Q000235:genetics*