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

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 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.

Effect of transporter and DNA repair gene polymorphisms to lung cancer chemotherapy toxicity

“…GLUT1 is the main glucose transporter in the mammalian blood-brain barrier. Lack of SCL2A1 mutations alternate hemiplegia of childhood, and deficiency of GLUT1 was a significant proportion of patients with myoclonic astatic epilepsy (MAE) and early onset absence epilepsy (EOAE) [16][17][18]. Polymorphisms of GLUT1 were reported to be associated with multiple diseases, such as type 2 diabetes mellitus, meningomyelocele, and hepatocellular carcinoma [19][20][21].…”

Refractory absence seizures: An Italian multicenter retrospective study

“…16 By contrast, a collaborative Italian study failed to find SLC2A1 mutations in a series of 84 patients with onset of absences within the first 3 years of life. 17 The discrepancies between the two series may be related to the different diagnostic criteria. Other authors suggest that the analysis of Glut1D should be limited to patients with refractory seizures or when associated with neurological deficits.…”

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

“…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., ).…”