Journal of Pediatric Epilepsy 2016; 05(03): 139-141
DOI: 10.1055/s-0036-1585065
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Genetics Studies in Idiopathic Focal Epilepsies in Childhood

Pierre Szepetowski
1   French National Institute of Health and Medical Research (INSERM) U901, Marseille, France
2   Mediterranean Institute of Neurobiology (INMED), Marseille, France
3   Aix-Marseille University, Marseille, France
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02. Februar 2016

25. März 2016

01. Juli 2016 (online)


Numerous “epilepsy genes” have been identified in the recent years, thanks to the recent progress in massive parallel sequencing and genome analysis. Among the formerly called “idiopathic” childhood focal epilepsies, a first and major gene responsible for focal epilepsies and epileptic encephalopathies with speech and language dysfunction (the epilepsy–aphasia spectrum, EAS), GRIN2A, has been identified. GRIN2A encodes the GluN2A subunit of N-methyl-D-aspartate receptors, which are gated by the excitatory neurotransmitter glutamate. More than 60 mutations of various types and with various functional consequences in vitro have been reported. Several rare genetic variants that may influence EAS have been reported in a few other genes. The identification of GRIN2A as a first cause of EAS represents a first key point that will help in deciphering the underlying pathophysiology and in understanding the clinical heterogeneity and variability seen in the patients and families.