Review Article

Genetics of Temporal Lobe Epilepsy: A Review

Table 1

Genomic variations linked to familial TLE.

GeneGenomic variationProtein alterationAccession numberType of TLEReference

LGI1c.1639insAFrameshift, protein truncationCI020606ADLTE/ADPEAFKalachikov et al. 2002 [11]
LGI1c.611delC (835delC)Frameshift, protein truncationCD020573ADLTE/ADPEAFKalachikov et al. 2002 [11]
LGI1c.136-3C>A (359-3C>A)Intron retention, protein truncationCM022035ADLTE/ADPEAFKalachikov et al. 2002 [11]
LGI1c.1050-1051delCAFrameshift, protein truncationCD020574ADLTE/ADPEAFKalachikov et al. 2002 [11]
LGI1c.1148A>Cp.Glu383Alars28937874ADLTE/ADPEAFKalachikov et al. 2002 [11]
LGI1c.758delCFrameshift, protein truncationCD021020ADLTE/ADPEAFMorante-Redolat et al. 2002 [16]
LGI1c.1420C>TPremature stop codon, protein truncationCM020950ADLTE/ADPEAFMorante-Redolat et al. 2002 [16] Bisulli et al. 2004 [13]
LGI1c.136T>Cp.Cys46Argrs104894166ADLTE/ADPEAFGu et al. 2002 [17]
LGI1c.953T>Gp.Phe318Cysrs28939075ADLTE/ADPEAFFertig et al. 2003 [18]
LGI1c.598T>Cp.Cys200ArgCM034239ADLTE/ADPEAFMichelucci et al. 2003 [19]
LGI1c.1295T>Ap.Val432GluCM034240ADLTE/ADPEAFMichelucci et al. 2003 [19]
LGI1Unknownp.Leu26ArgUnknownADLTE/ADPEAFPizzuti et al. 2003 [20]
LGI1c.839-2A>CIntron retention, protein truncationUnknownADLTE/ADPEAFKobayashi et al. 2003 [21]
LGI1c.124T>Gp.Cys42GlyCM041029ADLTE/ADPEAFBerkovic et al. 2004 [22]
LGI1c.1418C>Tp.Ser473LeuCM041033ADLTE/ADPEAFBerkovic et al. 2004 [22]
Kawamata et al. 2010 [23]
LGI1c.124T>C (348T>C)p.Cys42ArgCM041030ADLTE/ADPEAFOttman et al. 2004 [24]
LGI1c.893T>Cp.Ile298ThrCM041032ADLTE/ADPEAFOttman et al. 2004 [24]
LGI1c.329C>Ap.Ala110AspCD044789ADLTE/ADPEAFOttman et al. 2004 [24]
LGI1c.329delCFrameshift, protein truncationCD044789ADLTE/ADPEAFHedera et al. 2004 [25]
LGI1c.435C>Gp.Ser145ArgCM044660ADLTE/ADPEAFHedera et al. 2004 [25]
LGI1c.461T>Cp.Leu154ProCM055408ADLTE/ADPEAFPisano et al. 2005 [26]
LGI1c.406C>Tp.Arg136Trprs119488099ADLTE/ADPEAFMichelucci et al. 2007 [14]
LGI1c.431+1G>ADeletion, protein truncationUnknownADLTE/ADPEAFChabrol et al. 2007 [27]
LGI1c.695T>Cp.Leu232Prors104894167ADLTE/ADPEAFChabrol et al. 2007 [27]
LGI1c.365T>Ap.Ile122Lysrs119488100ADLTE/ADPEAFStriano et al. 2008 [28]
LGI1c.367G>Ap.Glu123LysUnknownADLTE/ADPEAF Bonaventura et al. 2009 [29]
LGI1c.1421G>Ap.Arg474GluCM020950ADLTE/ADPEAFKawamata et al. 2010 [23]
LGI1c.1219C>Tp.Arg407CysUnknownADLTE/ADPEAFStriano et al. 2011 [30]
SCN1Ac.3809A>Cp.Lys1270Thrrs121918626TLE + GEFS+Abou-Khalil et al. 2001 [31]
SCN1Bc.363C>Gp.Cys121Trprs104894718TLE + GEFS+Scheffer et al. 2007 [32]
SCN1BUnknownp.Arg85CysCM071081TLE + GEFS+Scheffer et al. 2007 [32]
SCN1BUnknownp.Arg85HisCM071082TLE + GEFS+Scheffer et al. 2007 [32]