title: Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
abstract: OBJECTIVE
  This study aimed to determine the contribution of EFHC1 variants to the phenotypic variability of juvenile myoclonic epilepsy (JME) and to evaluate their diagnostic value regarding previously identified clinical long-term seizure outcome predictors in a consecutive cohort of patients with JME.
  
  
  METHODS
  Thirty-eight probands and three family members affected with JME were studied at a tertiary epilepsy center with a review of their medical records and a subsequent face-to-face interview. All coding EFHC1 exons and adjacent exon/intron boundaries were directly sequenced.
  
  
  RESULTS
  The previously reported EFHC1 mutation F229L was found in two cases who presented with early generalized tonic-clonic seizure (GTCS) onset and appeared to be associated with milder subtypes of JME. Variant R294H was identified in two further probands who had a subtype of JME developing from childhood absence epilepsy. However, segregation of the phenotype with this variant could not be confirmed in one family.
  
  
  CONCLUSIONS
  Our findings corroborate the heterogeneity of JME as an electroclinical epilepsy syndrome and provide evidence that genetic factors may influence and help predict the long-term seizure outcome in patients with JME.
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany. Electronic address: felix.schneider@uni-greifswald.de.
authors.forename: Felix
authors.initials: F
authors.lastname: von Podewils
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
authors.forename: Victoria
authors.initials: V
authors.lastname: Kowoll
authors.affiliation: Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, Ernst Moritz Arndt University, Greifswald, Germany.
authors.forename: Winnie
authors.initials: W
authors.lastname: Schroeder
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany; Epilepsy Center Berlin-Brandenburg, Berlin, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Geithner
authors.affiliation: Epilepsy Center, Neurological Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
authors.forename: Zhong I
authors.initials: ZI
authors.lastname: Wang
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Gaida
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
authors.forename: Paula
authors.initials: P
authors.lastname: Bombach
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
authors.forename: Christof
authors.initials: C
authors.lastname: Kessler
authors.affiliation: Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, Ernst Moritz Arndt University, Greifswald, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Felbor
authors.affiliation: Department of Neurology, Epilepsy Center, University of Greifswald, Greifswald, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Runge
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020190:Myoclonic Epilepsy, Juvenile / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D055815:Young Adult
chemical_list: D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human
keywords: EFHC1; Genetic variants; Juvenile myoclonic epilepsy; Outcome predictors