Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two Mutations arose de novo, and two were familial. These Findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.
Early onset absence epilepsy due to mutations in the glucose transporter GLUT1 / Suls A; Mullen SA; Weber YG; Verhaert K; Ceulemans B; Guerrini R; Wuttke TV; Salvo-Vargas A; Deprez L; Claes LRF; Jordanova A; Berkovic SF; Lerche H; De Jonghe P; Scheffer IE. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - STAMPA. - 66 (3):(2009), pp. 415-419. [10.1002/ana.21724]
Early onset absence epilepsy due to mutations in the glucose transporter GLUT1
GUERRINI, RENZO;
2009
Abstract
Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two Mutations arose de novo, and two were familial. These Findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.
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