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Journal of Child Neurology, Vol. 22, No. 7, 907-910 (2007)
DOI: 10.1177/0883073807304706

Lack of Evidence for Association Between D2S124 and D2S111 Polymorphisms of the SCN2A Gene and Idiopathic Generalized Epilepsy With Generalized Tonic—Clonic Seizures

Anna Volzone, MD

Department of Neurosciences, Pediatric Neurology Unit, University of Rome "Tor Vergata"

Renata Rizzo, MD

Department of Pediatrics, University of Catania

Antonella Gagliano, MD

Department of Child Neuropsychiatry University of Messina, Italy

Mariella Palmarino, BS

Institute of Molecular Biology and Pathology, National Research Council Rome

Paola Lucarelli, BS

Institute of Molecular Biology and Pathology, National Research Council Rome

Carla Arpino, MD

Department of Neurosciences, Pediatric Neurology Unit, University of Rome "Tor Vergata"

Paolo Curatolo, MD

Department of Neurosciences, Pediatric Neurology Unit, University of Rome "Tor Vergata", curatolo @uniroma2.it

Idiopathic generalized epilepsy syndromes are generally considered as brain channelopathies due to alteration of several genes. The aim of our study was to compare the distribution of D2S124 and D2S111 genetic polymorphisms of the SCN2A gene between cases with a specific idiopathic generalized epilepsy subtype (with generalized tonic—clonic seizures) and healthy controls. Allele frequencies of both the D2S111 and the D2S124 polymorphisms were not significantly different between cases and control. Further studies are needed to investigate if possible polymorphic variants of SCN2A gene may influence seizures susceptibility of idiopathic generalized epilepsy with tonic—clonic seizures.

Key Words: idiopathic generalized epilepsy • genetic polymorphism


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