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

• Published in: Epilepsy research Vol. 95; no. 3; pp. 221 - 226
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier B.V 01.08.2011; Elsevier
• Subjects: Absence epilepsy; Age of Onset; Anticonvulsants. Antiepileptics. Antiparkinson agents; Biological and medical sciences; Child, Preschool; DNA Mutational Analysis; Early-onset; EEG; Electroencephalography; Epilepsy, Absence - genetics; Female; Glucose Transporter Type 1 - genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; IGE; Infant; Italy; Male; Medical sciences; Mutation - genetics; Nervous system (semeiology, syndromes); Neurology; Neuropharmacology; Pharmacology. Drug treatments; Retrospective Studies; SLC2A1; Therapy; Italy; SLC2A1; Therapy; Absence epilepsy; Early-onset; IGE; EEG; Nervous system diseases; Epilepsy; Electrophysiology; Electroencephalography; Cerebral disorder; Case study; Treatment; Central nervous system disease
• ISSN: 0920-1211; 1872-6844; 1872-6844
• DOI: 10.1016/j.eplepsyres.2011.03.017

To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. 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). 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. 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.