Early-onset absence epilepsy

SLC2A1 gene analysis and treatment evolution

S. Agostinelli, M. Traverso, P. Accorsi, F. Beccaria, V. Belcastro, G. Capovilla, S. Cappanera, A. Coppola, B. Dalla Bernardina, F. Darra, M. Ferretti, M. Elia, D. Galeone, L. Giordano, G. Gobbi, F. Nicita, P. Parisi, M. Pezzella, A. Spalice, S. Striano & 6 others E. Tozzi, A. Vignoli, C. Minetti, F. Zara, P. Striano, A. Verrotti

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Background and purposes: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between patients who became seizure-free with anti-epileptic drug (AED) monotherapy (group I) and those who needed add-on treatment of a second AED (group II). Methods: We reviewed children with EOAE attending different Italian epilepsy centers. All participants had onset of absence seizures within the first 3 years of life but otherwise conformed to a strict definition of childhood absence epilepsy. Mutation analysis of SLC2A1 was performed in each patient. Results: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusion criteria. No mutation in SLC2A1 was found. There were no statistical differences between the two groups with regard to F/M ratio, age at onset of EOAE, early history of febrile seizures, first-degree family history for genetic generalized epilepsy, duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failed withdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month follow-up EEG data. Mean duration of seizures/active epilepsy was significantly shorter in group I than in group II (P = 0.008). Conclusions: We demonstrate that in a large series of children with rigorous diagnosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration of seizures/active epilepsy, no significant differences in demographic and electroclinical aspects are observed between children with EOAE who responded well to AED monotherapy and those who became seizure-free with add-on treatment of a second AED.

Original languageEnglish
Pages (from-to)856-859
Number of pages4
JournalEuropean Journal of Neurology
Volume20
Issue number5
DOIs
Publication statusPublished - May 2013

Fingerprint

Absence Epilepsy
Genes
Seizures
Epilepsy
Mutation
Therapeutics
Pharmaceutical Preparations
Demography
Generalized Epilepsy
Febrile Seizures
Age of Onset
Electroencephalography
Drug Therapy

Keywords

  • Early-onset absence epilepsy
  • GLUT-1 deficiency syndrome
  • SLC2A1 gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., ... Verrotti, A. (2013). Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. European Journal of Neurology, 20(5), 856-859. https://doi.org/10.1111/j.1468-1331.2012.03871.x

Early-onset absence epilepsy : SLC2A1 gene analysis and treatment evolution. / Agostinelli, S.; Traverso, M.; Accorsi, P.; Beccaria, F.; Belcastro, V.; Capovilla, G.; Cappanera, S.; Coppola, A.; Dalla Bernardina, B.; Darra, F.; Ferretti, M.; Elia, M.; Galeone, D.; Giordano, L.; Gobbi, G.; Nicita, F.; Parisi, P.; Pezzella, M.; Spalice, A.; Striano, S.; Tozzi, E.; Vignoli, A.; Minetti, C.; Zara, F.; Striano, P.; Verrotti, A.

In: European Journal of Neurology, Vol. 20, No. 5, 05.2013, p. 856-859.

Research output: Contribution to journalArticle

Agostinelli, S, Traverso, M, Accorsi, P, Beccaria, F, Belcastro, V, Capovilla, G, Cappanera, S, Coppola, A, Dalla Bernardina, B, Darra, F, Ferretti, M, Elia, M, Galeone, D, Giordano, L, Gobbi, G, Nicita, F, Parisi, P, Pezzella, M, Spalice, A, Striano, S, Tozzi, E, Vignoli, A, Minetti, C, Zara, F, Striano, P & Verrotti, A 2013, 'Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution', European Journal of Neurology, vol. 20, no. 5, pp. 856-859. https://doi.org/10.1111/j.1468-1331.2012.03871.x
Agostinelli S, Traverso M, Accorsi P, Beccaria F, Belcastro V, Capovilla G et al. Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. European Journal of Neurology. 2013 May;20(5):856-859. https://doi.org/10.1111/j.1468-1331.2012.03871.x
Agostinelli, S. ; Traverso, M. ; Accorsi, P. ; Beccaria, F. ; Belcastro, V. ; Capovilla, G. ; Cappanera, S. ; Coppola, A. ; Dalla Bernardina, B. ; Darra, F. ; Ferretti, M. ; Elia, M. ; Galeone, D. ; Giordano, L. ; Gobbi, G. ; Nicita, F. ; Parisi, P. ; Pezzella, M. ; Spalice, A. ; Striano, S. ; Tozzi, E. ; Vignoli, A. ; Minetti, C. ; Zara, F. ; Striano, P. ; Verrotti, A. / Early-onset absence epilepsy : SLC2A1 gene analysis and treatment evolution. In: European Journal of Neurology. 2013 ; Vol. 20, No. 5. pp. 856-859.
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abstract = "Background and purposes: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between patients who became seizure-free with anti-epileptic drug (AED) monotherapy (group I) and those who needed add-on treatment of a second AED (group II). Methods: We reviewed children with EOAE attending different Italian epilepsy centers. All participants had onset of absence seizures within the first 3 years of life but otherwise conformed to a strict definition of childhood absence epilepsy. Mutation analysis of SLC2A1 was performed in each patient. Results: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusion criteria. No mutation in SLC2A1 was found. There were no statistical differences between the two groups with regard to F/M ratio, age at onset of EOAE, early history of febrile seizures, first-degree family history for genetic generalized epilepsy, duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failed withdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month follow-up EEG data. Mean duration of seizures/active epilepsy was significantly shorter in group I than in group II (P = 0.008). Conclusions: We demonstrate that in a large series of children with rigorous diagnosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration of seizures/active epilepsy, no significant differences in demographic and electroclinical aspects are observed between children with EOAE who responded well to AED monotherapy and those who became seizure-free with add-on treatment of a second AED.",
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AU - Traverso, M.

AU - Accorsi, P.

AU - Beccaria, F.

AU - Belcastro, V.

AU - Capovilla, G.

AU - Cappanera, S.

AU - Coppola, A.

AU - Dalla Bernardina, B.

AU - Darra, F.

AU - Ferretti, M.

AU - Elia, M.

AU - Galeone, D.

AU - Giordano, L.

AU - Gobbi, G.

AU - Nicita, F.

AU - Parisi, P.

AU - Pezzella, M.

AU - Spalice, A.

AU - Striano, S.

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