title: A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
abstract: OBJECTIVE
  To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life.
  
  
  METHODS
  We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared with those of subjects with a diagnosis of childhood absence epilepsy (CAE).
  
  
  RESULTS
  Among 33 children with absence epilepsy starting before 3 years of life, there were 20 boys and 13 girls. Mean seizure onset was at 28.0 ± 8.3 (range: 8-36) months of life. Two children displayed borderline intellectual functioning at long-term follow-up. Twenty-eight (85%) patients showed excellent response to therapy. Three subjects evolved into a different form of idiopathic generalized epilepsy (IGE). No SLC2A1 mutation was identified in 20 (60.6%) patients tested. The main clinical features of patients with early-onset absences did not differ from those of CAE except for increased prevalence of males (p=0.002) and longer treatment duration (p=0.001) in the former.
  
  
  CONCLUSIONS
  Strong similarities in the electroclinical features and outcome between children with early-onset absences and those with CAE support the view that these conditions are part of the wide spectrum of IGE.
authors.affiliation: UO Neuropsichiatria Infantile, Centro Regionale Epilessia, Spedali Civili, Brescia, Italy. pafivan@libero.it
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Accorsi
authors.forename: Jessica
authors.initials: J
authors.lastname: Galli
authors.forename: Marianna
authors.initials: M
authors.lastname: Pezzella
authors.forename: Monica
authors.initials: M
authors.lastname: Traverso
authors.forename: Silvia
authors.initials: S
authors.lastname: Battaglia
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Baglietto
authors.forename: Francesca
authors.initials: F
authors.lastname: Beccaria
authors.forename: Caterina
authors.initials: C
authors.lastname: Cerminara
authors.forename: Silvia
authors.initials: S
authors.lastname: Gambara
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
authors.forename: Giovanni
authors.initials: G
authors.lastname: Crichiutti
authors.forename: Francesca
authors.initials: F
authors.lastname: Bisulli
authors.forename: Mariangela
authors.initials: M
authors.lastname: Pinci
authors.forename: Paolo
authors.initials: P
authors.lastname: Tinuper
authors.forename: Eleonora
authors.initials: E
authors.lastname: Briatore
authors.forename: Stefano
authors.initials: S
authors.lastname: Calzolari
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human