A clinical and genetic study of 33 new cases with early-onset absence epilepsy

作者：Giordano Lucio^*; Vignoli Aglaia; Accorsi Patrizia; Galli Jessica; Pezzella Marianna; Traverso Monica; Battaglia Silvia; Baglietto Maria Giuseppina; Beccaria Francesca; Cerminara Caterina; Gambara Silvia; Del Giudice Ennio; Crichiutti Giovanni; Bisulli Francesca; Pinci Mariangela; Tinuper Paolo; Briatore Eleonora; Calzolari Stefano; Coppola Antonietta; Canevini Maria Paola; Capovilla Giuseppe; Striano Salvatore; Zara Federico; Minetti Carlo; Striano Pasquale

来源：Epilepsy Research, 2011, 95(3): 221-226.

DOI：10.1016/j.eplepsyres.2011.03.017

• Absence epilepsy
• Early-onset
• IGE
• SLC2A1
• EEG
• Therapy

Purpose: 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.

• 出版日期2011-8