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

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

doi:10.1016/j.eplepsyres.2011.03.017

Cited by 17 publications

(23 citation statements)

References 22 publications

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“…Difference in LTG dose values can be due to a pharmacodynamic beneficial effect of small LTG doses when added to VPA, which is the first‐line AED most frequently used in our patients on bitherapy. These results are in line with those that we reported previously (Giordano et al., ; Verrotti et al., ; Agostinelli et al., ).…”

Section: Discussionsupporting

confidence: 94%

“…Onset of TAS is frequently limited between 4 and 9 years of age and the youngest age has been set at 3 years (Panayiotopoulos, ). Nevertheless, clinical series of children with TAS before 3 years of age have been reported (Shahar et al., ; Caraballo et al., ; Giordano et al., ; Verrotti et al., ; Agostinelli et al., ). In the first 3 years of life, TAS may occur in different epileptic syndromes, such as CAE of early onset, benign myoclonic epilepsy of infancy, eyelid myoclonia with absences, and epilepsy with myoclonic absence (Caraballo et al., ).…”

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confidence: 99%

“…In the first 3 years of life, TAS may occur in different epileptic syndromes, such as CAE of early onset, benign myoclonic epilepsy of infancy, eyelid myoclonia with absences, and epilepsy with myoclonic absence (Caraballo et al., ). Recently, we showed that the application of strict criteria for CAE, suggested by Panayiotopoulos, leads to a group of children showing homogeneous electroclinical features with response to therapy and prognosis, similar but not identical to CAE (Giordano et al., ; Verrotti et al., ; Agostinelli et al., ). In contrast, some authors, using broad inclusion criteria, observed a variable epilepsy outcome, ranging from complete control with first antiepileptic drug (AED) monotherapy to severe refractoriness despite polytherapy (Suls et al., ; Arsov et al., ).…”

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confidence: 99%

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Clinical dissection of early onset absence epilepsy in children and prognostic implications

Agostinelli

Accorsi²,

Beccaria

et al. 2013

Epilepsia

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SUMMARYPurpose: To investigate whether patients with typical absence seizures (TAS) starting in the first 3 years of life, conformed to Panayiotopoulos's definition of childhood absence epilepsy (CAE), show different electroclinical course than those not fulfilling CAE criteria. Methods: In this multicenter retrospective study, we choose a fixed duration follow-up of 36 months to examine the electroclinical course of epilepsy in all children with TAS starting before 3 years of age. The probands who fulfilled Panayiotopoulos's criteria for CAE were classified as having pure early onset absence epilepsy (P-EOAE), whereas those who did not as nonpure EOAE (NP-EOAE). In addition, these two groups of patients were further stratified according to the number of antiepileptic drugs taken to obtain initial seizure control (mono-, bi-, and tritherapy). Key Findings: Patients with P-EOAE (n = 111) showed earlier initial seizure control (p = 0.030) and better seizure-free survival curve (p = 0.004) than those with NP-EOAE (n = 77). No mutation in SLC2A1 gene or abnormal neuroimaging was observed in P-EOAE. Among patients with NP-EOAE, those receiving tritherapy showed increased risk of structural brain abnormalities (p = 0.001) or SLC2A1 mutations (p = 0.001) but fewer myoclonic features (p = 0.031) and worse seizure-free survival curve (p = 0.047) than those treated with mono-and bitherapy. Children with NP-EOAE had 2.134 the odds of having relapse during the follow-up compare to those with P-EOAE. Significance: Children with early onset TAS who did meet Panayiotopoulos's criteria showed a favorable course of epilepsy, whereas patients not fulfilling Panayiotopoulos's criteria showed increased risk of relapse at long-term follow-up.

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Section: Discussionsupporting

confidence: 94%

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confidence: 99%

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confidence: 99%

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Clinical dissection of early onset absence epilepsy in children and prognostic implications

Agostinelli

Accorsi²,

Beccaria

et al. 2013

Epilepsia

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“…According to the strict criteria proposed by Loiseau and Panayiotopoulos, the onset of CAE must be limited between 4 and 10 years of age with a peak at 5–7 years . Although lower age at onset compatible with CAE is uncertain, clinical series of children with TAS starting from a few months to 3 years of age have been reported . It is possible that early‐onset absence epilepsy (EOAE) is a distinct syndrome within the spectrum of GGE showing electroclinical features, response to therapy and prognosis similar but not identical to CAE.…”

Section: Introductionmentioning

confidence: 99%

Early‐onset absence epilepsy: SLC2A1 gene analysis and treatment evolution

Agostinelli

Traverso

Accorsi

et al. 2012

Euro J of Neurology

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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 attended 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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“…This condition is due to mutations in SLC2A1, which has been linked to paroxysmal exertional dyskinesia [30]. Mutations in SLC2A1 are associated with early-onset absence epilepsy, but early-onset absence epilepsy is not necessarily due to these mutations [31]. Patients with these mutations typically respond to the ketogenic diet [28].…”

Section: Treatmentmentioning

confidence: 99%