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Giordano, Lucio; Vignoli, Aglaia; Cusmai, Raffaella; Parisi, Pasquale; Mastrangelo, Massimo; Coppola, Giangennaro; Cordelli, Duccio Maria; Accorsi, Patrizia; Milito, Giuseppe; Darra, Francesca; Pruna, Dario; Belcastro, Vincenzo; Verrotti, Alberto; Striano, Pasquale

Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study

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  • Media type: E-Article
  • Title: Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study
  • Contributor: Giordano, Lucio; Vignoli, Aglaia; Cusmai, Raffaella; Parisi, Pasquale; Mastrangelo, Massimo; Coppola, Giangennaro; Cordelli, Duccio Maria; Accorsi, Patrizia; Milito, Giuseppe; Darra, Francesca; Pruna, Dario; Belcastro, Vincenzo; Verrotti, Alberto; Striano, Pasquale
  • Published: Wiley, 2013
  • Published in: Epilepsia, 54 (2013) s7, Seite 66-69
  • Language: English
  • DOI: 10.1111/epi.12311
  • ISSN: 0013-9580; 1528-1167
  • Origination:
  • Footnote:
  • Description: <jats:title>Summary</jats:title><jats:sec><jats:title>Purpose</jats:title><jats:p>Absence epilepsy with onset before age 4 years, or early onset absence epilepsy (<jats:styled-content style="fixed-case">EOAE</jats:styled-content>), has been rarely reported, and children with onset in the first year of life are considered almost exceptional. We aimed to report the clinical and electrophysiologic features of a cohort of children with absence epilepsy starting within the first year of life.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This was a multicenter study including patients with absence epilepsy starting within the first year of life and identified over a 20‐year period (1991–2011).</jats:p></jats:sec><jats:sec><jats:title>Key Findings</jats:title><jats:p>We identified 16 patients with absence epilepsy starting within the first year of life with a mean follow‐up of 6.4 years. Mean age at seizure onset was 10.3 ± (standard deviation)1.4 months (range 8–12). Two patients experienced rare tonic–clonic seizures that started later than the absences. None of the subjects had episodes of absence status epilepticus. Eleven subjects were seizure‐free with the first antiepileptic drug. In eight children, therapy was withdrawn after a mean 3.2 years of treatment. None evolved into a different form of idiopathic generalized epilepsy. <jats:styled-content style="fixed-case"><jats:italic>SLC2A1</jats:italic></jats:styled-content> gene analysis in 12 children (75%) failed to reveal glucose transporter 1 deficiency.</jats:p></jats:sec><jats:sec><jats:title>Significance</jats:title><jats:p><jats:styled-content style="fixed-case">EOAE</jats:styled-content>, including patients with onset within the first year of life, should be no more considered a distinct idiopathic generalized epilepsy (<jats:styled-content style="fixed-case">IGE</jats:styled-content>) syndrome, as it shows electroclinical features, response to therapy, and prognosis similar to childhood absence epilepsy. Moreover, early age of onset is not predictive of <jats:styled-content style="fixed-case">GLUT</jats:styled-content>‐1 deficiency and genetic analysis may be therefore avoided in patients meeting strict inclusion criteria.</jats:p></jats:sec>
  • Access State: Open Access