Genetic models of focal epilepsies

Morgane Boillot (1) , Stéphanie Baulac (1)

1 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute

Focal epilepsies were for a long time thought to be acquired disorders secondary to cerebral lesions. However, the important role of genetic factors in focal epilepsies is now well established. Several focal epilepsy syndromes are now proven to be monogenic disorders. While earlier genetic studies suggested a strong contribution of ion channel and neurotransmitter receptor genes, later work has revealed alternative pathways, among which the mammalian target of rapamycin (mTOR) signal transduction pathway with DEPDC5. In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF). We also emphasize, through a review of the current literature, the contribution of in vitro and in vivo models developed to unveil the pathogenic mechanisms underlying these two epileptic syndromes.

Mots clés: LGI1; KCNT1; Genetic focal epilepsies; Cellular and animal models; CHRNA4; CHRNB2; DEPDC5

Domaines: Génétique

Morgane Boillot, Stéphanie Baulac. Genetic models of focal epilepsies. Journal of Neuroscience Methods, 2015, 260, pp.132-143. ⟨10.1016/j.jneumeth.2015.06.003⟩. ⟨hal-01166902⟩