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Early‐onset absence epilepsy: SLC 2 A 1 gene analysis and treatment evolution

2012; Wiley; Volume: 20; Issue: 5 Linguagem: Inglês

10.1111/j.1468-1331.2012.03871.x

1468-1331

Sergio Agostinelli, Monica Traverso, Patrizia Accorsi, Francesca Beccaria, Vincenzo Belcastro, Giuseppe Capovilla, Silvia Cappanera, Antonietta Coppola, Bernardo Dalla Bernardina, Francesca Darra, Marta Ferretti, Maurizio Elia, Dante Galeone, Lucio Giordano, G. Gobbi, Francesco Nicita, Pasquale Parisi, Marianna Pezzella, Alberto Spalice, Salvatore Striano, E. Tozzi, Aglaia Vignoli, Carlo Minetti, Federico Zara, Pasquale Striano, Alberto Verrotti,

Pharmacological Effects and Toxicity Studies

Background and purposes To determine the prevalence of SLC 2A1 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 SLC 2A1 was performed in each patient. Results Eighty‐four children (57 in group I, 27 in group II ) fulfilled the inclusion criteria. No mutation in SLC 2A1 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 AED s 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 SLC 2A1 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 .