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.
A clinical and genetic study of 33 new cases with early-onset absence epilepsy / Giordano L.; Vignoli A.; Accorsi P.; Galli J.; Pezzella M.; Traverso M.; Battaglia S.; Baglietto M.G.; Beccaria F.; Cerminara C.; Gambara S.; Del Giudice E.; Crichiutti G.; Bisulli F.; Pinci M.; Tinuper P.; Briatore E.; Calzolari S.; Coppola A.; Canevini M.P.; Capovilla G.; Striano S.; Zara F.; Minetti C.; Striano P.. - In: EPILEPSY RESEARCH. - ISSN 0920-1211. - ELETTRONICO. - 95:3(2011), pp. 221-226. [10.1016/j.eplepsyres.2011.03.017]
A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
BISULLI, FRANCESCA;TINUPER, PAOLO;
2011
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
