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

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

doi:10.1016/j.eplepsyres.2011.03.017

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	221-226
Number of pages	6
Journal	Epilepsy Research
Volume	95
Issue number	3
DOIs	https://doi.org/10.1016/j.eplepsyres.2011.03.017
Publication status	Published - Aug 2011

Keywords

Absence epilepsy
Early-onset
EEG
IGE
SLC2A1
Therapy

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1016/j.eplepsyres.2011.03.017

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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., ... Striano, P. (2011). A clinical and genetic study of 33 new cases with early-onset absence epilepsy. Epilepsy Research, 95(3), 221-226. https://doi.org/10.1016/j.eplepsyres.2011.03.017

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

In: Epilepsy Research, Vol. 95, No. 3, 08.2011, p. 221-226.

Research output: Contribution to journal › Article › peer-review

Giordano, L, Vignoli, A, Accorsi, P, Galli, J, Pezzella, M, Traverso, M, Battaglia, S, Baglietto, MG, Beccaria, F, Cerminara, C, Gambara, S, Del Giudice, E, Crichiutti, G, Bisulli, F, Pinci, M, Tinuper, P, Briatore, E, Calzolari, S, Coppola, A, Canevini, MP, Capovilla, G, Striano, S, Zara, F , Minetti, C & Striano, P 2011, 'A clinical and genetic study of 33 new cases with early-onset absence epilepsy', Epilepsy Research, vol. 95, no. 3, pp. 221-226. https://doi.org/10.1016/j.eplepsyres.2011.03.017

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. / A clinical and genetic study of 33 new cases with early-onset absence epilepsy. In: Epilepsy Research. 2011 ; Vol. 95, No. 3. pp. 221-226.

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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.",

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AU - Giordano, Lucio

AU - Vignoli, Aglaia

AU - Accorsi, Patrizia

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AU - Pezzella, Marianna

AU - Traverso, Monica

AU - Battaglia, Silvia

AU - Baglietto, Maria Giuseppina

AU - Beccaria, Francesca

AU - Cerminara, Caterina

AU - Gambara, Silvia

AU - Del Giudice, Ennio

AU - Crichiutti, Giovanni

AU - Bisulli, Francesca

AU - Pinci, Mariangela

AU - Tinuper, Paolo

AU - Briatore, Eleonora

AU - Calzolari, Stefano

AU - Coppola, Antonietta

AU - Canevini, Maria Paola

AU - Capovilla, Giuseppe

AU - Striano, Salvatore

AU - Zara, Federico

AU - Minetti, Carlo

AU - Striano, Pasquale

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N2 - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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