Gene Variation (accession number) Reference Group or subgroup of patients Population origin Genomic variation counts
valuePatients,
(%) Controls,
(%) GABBR1 c.1465G>A → p.Gly489Ser Gambardella et al. 2003 [56 ] Nonlesional TLE Caucasian
<0.0001 (CM031183) Initial study A/A = 0 (0.0) A/A = 0 (0.0) A/G = 24 (17.0) A/G = 2 (0.5) G/G = 117 (83.0) G/G = 370 (99.5) Cavalleri et al. 2005 [5 ] Nonlesional TLE Caucasian
NS Replication study A/A = 0 (0.0) A/A = 0 (0.0) A/G = 2 (1.0) A/G = 8 (1.0) G/G = 218 (99.0) G/G = 1062 (99.0) Ma et al. 2005 [57 ] TLE-FS+ Caucasian
NS A/A = 0 (0.0) A/A = 1 (0.85) A/G = 1 (0.84) A/G = 0 (0.0) G/G = 119 (99.16) G/G = 117 (99.15) Salzmann et al. 2005 [58 ] Replication study Nonlesional TLE Caucasian
NS A/A = (0.0) A/A = (0.0) A/G = 2 (1.82) A/G = (0.0) G/G = 108 (98.18) G/G = 145 (100) Tan et al. 2005 [59 ] Replication study Nonlesional TLE Caucasian
NS A/A = (0.0) A/A = (0.0) A/G = 1 (0.4) A/G = 1 (0.6) G/G = 233 (99.6) G/G = 163 (99.4) Stögmann et al. 2006 [60 ] TLE Caucasian
NS A/A = 0 (0.0) A/A = 0 (0.0) A/G = 2 (1.1) A/G = 0 (0.0) G/G = 186 (98.9) G/G = 259 (100) Ren et al. 2005 [61 ] Nonlesional TLE Chinese
NS A/A = 0 (0.0) A/A = 0 (0.0) A/G = 0 (0.0) A/G = 0 (0.0) G/G = 112 (100) G/G = 124 (100) Wang et al. 2008 [62 ] TLE Chinese
NS A/A = 0 (0.0) A/A = 0 (0.0) A/G = 0 (0.0) A/G = 0 (0.0) G/G = 315 (100) G/G = 318 (100) Kauffman et al. 2008 [63 ] TLE-HS+ Argentinean
3.788e−8 A/A = 0 (0.0) A/A = 0 (0.0) A/G = 49 (48.0) A/G = 6 (8.5) G/G = 53 (52.0) G/G = 65 (91.5) GABBR2 G>A → intron 1 Wang et al. 2008 [62 ] TLE Chinese
0.003 (rs967932) Initial study A/A = 72 (22.64) A/A = 63 (20.0) A/G = 164 (51.57) A/G = 136 (43.17) G/G = 82 (25.79) G/G = 116 (36.83) PDYN 68 bp tandem repeat → promoter
Stögmann et al. 2002 [64 ] Nonlesional TLE, Caucasian
0.005 H-allele = 3 or 4 repeats Initial study familial risk L/L = 10 (23.3) L/L = 18 (8.9) L-allele = 1 or 2 repeats L/H = 23 (53.5) L/H = 88 (43.6) (rs71193945) H/H = 10 (23.3) H/H = 96 (47.5) Gambardella et al. 2003 [65 ] Replication study Nonlesional TLE, familial risk Caucasian
NS L/L = 9 (7.8) L/L = 16 (6.2) L/H = 40 (34.8) L/H = 105 (40.5) H/H = 66 (57.4) H/H = 138 (53.3) Tilgen et al. 2003 [66 ] Replication study Nonlesional TLE, familial risk Caucasian
NS L/L = 3 (7.0) L/L = 22 (11.0) L/H = 21 (45.0) L/H = 84 (41.0) H/H = 22 (48.0) H/H = 99 (48.0) Cavalleri et al. 2005 [5 ] Replication study Nonlesional TLE, familial risk Caucasian
NS L/L = 8 (17.0) L/L = 30 (8.0) L/H = 22 (47.0) L/H = 160 (44.0) H/H = 17 (36.0) H/H = 175 (48.0) Salzmann et al. 2008 [67 ] Replication study Nonlesional TLE, familial risk Caucasian
NS L/L = 2 (9.5) L/L = 14 (6.8) L/H = 11 (52.4) L/H = 78 (37.9) H/H = 8 (38.1) H/H = 114 (55.3) Kauffman et al. 2008 [68 ] Nonlesional TLE, familial risk Argentinean
NS L/L = 1 (5.5) L/L = 8 (9.3) L/H = 8 (44.5) L/H = 37 (43.0) H/H = 9 (50.0) H/H = 41 (47.7) ApoE Isoform ε 4 (CI056481) Gambardella et al. 1999 [69 ] Nonlesional TLE Caucasian
NS Initial study ε 4+ = 5; years not indicatedε 4− = 58; years not indicated
Briellmann et al. 2000 [70 ] Early onset of TLE Caucasian
0.004 Replication study associated with ε 4 ε 4+ = 10;
yearsε 4− = 33;
yearsCavalleri et al. 2005 [5 ] Early onset of TLE Caucasian
NS Replication study associated with ε 4 ε 4+ = 30;
yearsε 4− = 151;
yearsGambardella et al. 2005 [71 ] Early onset of TLE Caucasian
NS Replication study associated with ε 4 ε 4+ = 24;
yearsε 4− = 114;
yearsYeni et al. 2005 [72 ] Early onset of Turkish
NS TLE-HS+ ε 4+ = 8;
yearsassociated with ε 4 ε 4− = 39;
yearsSalzmann et al. 2008 [67 ] Early onset of TLE Caucasian
0.003 Replication study associated with ε 4 ε 4+ = 26;
yearsε 4− = 80;
yearsKauffman et al. 2010 [73 ] Early onset of Argentinean
NS TLE-HS+ ε 4+ = 23;
yearsassociated with ε 4 ε 4− = 55;
yearsIL-1α c.−889C>T → promoter Kanemoto et al. 2000 [74 ] TLE-HS+/− Japanese TLE-HS+
TLE-HS+ versus Allele 1 = C Initial study
1/1 = 87 (77.7) controls = NS Allele 2 = T (unknown) 1/1 = 38 (76.0) 1/2 = 25 (22.3) 1/2 = 10 (20.0) 2/2 = 0 (0.0) 2/2 = 2 (4.0) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 44 (83.0) 1/2 = 8 (15.1) 2/2 = 1 (1.9) Ozkara et al. 2006 [75 ] TLE-HS+ Turkish
NS 1/1 = 23 (48.9) 1/1 = 37 (37.3) 1/2 = 23 (48.9) 1/2 = 52 (52.5) 2/2 = 1 (2.1) 2/2 = 10 (10.1) Ozkara et al. 2006 [75 ] TLE-FS+/− Turkish TLE-FS+ TLE-FS+ versus Initial study
TLE-FS− = NS 1/1 = 16 (57.1) 1/2 = 12 (42.8) 2/2 = 0 (0.0) TLE-FS−
1/1 = 9 (47.3) 1/2 = 10 (52.6) 2/2 = 0 (0.0) Salzmann et al. 2008 [67 ] TLE-HS+/− Caucasian TLE-HS+
TLE-HS+ versus
1/1 = 99 (42.1) controls = 0.027 1/1 = 50 (58.1) 1/2 = 118 (50.2) 1/2 = 29 (33.7) 2/2 = 8 (7.7) 2/2 = 7 (8.1) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 15 (65.2) 1/2 = 7 (30.4) 2/2 = 1 (4.4) TLE-FS− Caucasian TLE-FS− TLE-FS+ versus
controls =0.0078 1/1 = 33 (61.1) 1/2 = 16 (29.6) 2/2 = 5 (9.3) IL-1RA 86 bp tandem repeat → intron 2 Kanemoto et al. 2000 [74 ] TLE-HS+/− Japanese TLE-HS+
TLE-HS+ versus Allele 4 = 5 repeats Initial study
1/1 = 102 (91.9) controls = NS Allele 1 = 4 repeats 1/1 = 46 (92.0) 1/2 = 6 (5.4) Allele 2 = 2 repeats 1/2 = 3 (6.0) 1/3 = 1 (0.9) Allele 3 = 3 repeats 1/3 = 1 (2.0) 1/4 = 2 (1.8) Allele 5 = 6 repeats (rs2234663) 1/4 = 0 (0.0) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 52 (98.1) 1/2 = 1 (1.9) 1/3 = 0 (0.0) 1/4 = 0 (0.0) Salzmann et al. 2008 [67 ] TLE-HS+/− Caucasian TLE-HS+
TLE-HS+ versus
1/1 = 128 (52.9) controls = NS 1/1 = 43 (50.0) 1/2 = 90 (37.2) 1/2 = 36 (41.9) 1/4 = 5 (2.1) 1/4 = 1 (1.2) 1/5 = 0 (0.0) 1/5 = 0 (0.0) 2/2 = 16 (6.6) 2/2 = 6 (7.0) 2/4 = 3 (1.2) 2/4 = 0 (0.0) TLE-HS− TLE-HS− versus
controls = 0.001 1/1 = 5 (21.7) 1/2 = 13 (56.5) 1/4 = 0 (0.0) 1/5 = 1 (4.3) 2/2 = 4 (17.4) 2/4 = 0 (0.0) IL-1β c.−511C>T → promoter Kanemoto et al. 2000 [74 ] TLE-HS+/− Japanese TLE-HS+
TLE-HS+ versus Allele 1 = C Initial study
1/1 = 31 (27.7) controls =0.0085 Allele 2 = T (rs1799916) 1/1 = 9 (18.0) 1/2 = 58 (51.8) 1/2 = 19 (38.0) 2/2 = 23 (20.5) 2/2 = 22 (44.0) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 13 (24.5) 1/2 = 30 (56.6) 2/2 = 10 (18.9) Kanemoto et al. 2003 [76 ] TLE-HS+/− Japanese TLE-HS+
TLE-HS+ versus 16 TLE-HS+ and 11 TLE-HS−
1/1 = 44 (27.0) controls =0.0028 were added to 1/1 = 12(18.2) 1/2 = 82 (50.3) initial study [74 ] 1/2 = 24 (36.4) 2/2 = 37 (22.7) 2/2 = 30 (45.5) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 16 (25.0) 1/2 = 36 (56.3) 2/2 = 12 (18.7) Heils et al. 2000 [77 ] TLE-HS+ Caucasian
NS 1/1 = 33 (38.0) 1/1 = 57 (42.0) 1/2 = 42 (49.0) 1/2 = 60 (45.0) 2/2 = 11 (13.0) 2/2 = 16 (12.0) Buono et al. 2001 [78 ] TLE-HS+ Caucasian
NS 1/1 = 31 (50.8) 1/1 = 44 (37.0) 1/2 = 24 (39.3) 1/2 = 68 (57.1) 2/2 = 6 (9.8) 2/2 = 7 (5.9) Jin et al. 2003 [79 ] TLE-HS+/− Chinese TLE-HS+
TLE-HS+ versus
1/1 = 26 (23.0) controls = NS 1/1 = 16 (24.0) 1/2 = 62 (54.0) 1/2 = 32 (48.0) 2/2 = 27 (23.0) 2/2 = 19 (28.0) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 12 (27.0) 1/2 = 24 (53.0) 2/2 = 9 (20.0) Cavalleri et al. 2005 [5 ] TLE-HS+ Caucasian
NS 1/1 = 59 (45.0) 1/1 = 161 (44.0) 1/2 = 57 (44.0) 1/2 = 162 (45.0) 2/2 = 15 (11.0) 2/2 = 41 (11.0) Ozkara et al. 2006 [75 ] TLE-HS+ Turkish
NS 1/1 = 16 (34.0) 1/1 = 41 (41.4) 1/2 = 21 (44.6) 1/2 = 41 (41.4) 2/2 = 10 (21.2) 2/2 = 17 (17.1) Ozkara et al. 2006 [75 ] TLE-FS+/− Turkish TLE-FS + TLE-FS+ versus Initial study
TLE-FS− = NS 1/1 = 9 (32.1) 1/2 = 13 (46.4) 2/2 = 6 (21.4) TLE-FS−
1/1 = 5 (26.3) 1/2 = 9 (47.3) 2/2 = 5 (26.3) Salzmann et al. 2008 [67 ] TLE-HS+/− Caucasian TLE-HS+
TLE-HS+ versus
1/1 = 99 (43.6) controls = NS 1/1 = 35 (40.7) 1/2 = 108 (47.6) 1/2 = 45 (52.3) 2/2 = 20 (8.8) 2/2 = 6 (7.0) TLE-HS− TLE-HS− versus controls = NS
1/1 = 12 (52.2) 1/2 = 9 (39.1) 2/2 = 2 (8.7) IL-1β IL-1β + 3953 → exon 5 Kanemoto et al. 2000 [74 ] TLE-HS+/− Japanese TLE-HS+
TLE-HS+ versus Initial study
1/1 = 105 (93.8) controls = NS Allele 1 and allele 2 1/1 = 45 (90.0) 1/2 = 7 (6.3) (CM040228) 1/2 = 5 (10.0) 2/2 = 0 (0.0) 2/2 = 0 (0.0) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 49 (92.5) 1/2 = 3 (5.7) 2/2 = 1 (1.9) Ozkara et al. 2006 [75 ] TLE-HS+ Turkish
NS 1/1= 28 (59.5) 1/1= 63 (63.6) 1/2 = 18 (38.2) 1/2 = 30 (30.3) 2/2 = 1 (2.1) 2/2 = 17 (17.1) Ozkara et al. 2006 [75 ] TLE-FS+/− Turkish TLE-FS+ TLE-FS+ versus Initial study
TLE-FS− = NS 1/1 = 19 (67.8) 1/2 = 9 (32.1) 2/2 = 0 (0.0) TLE-FS−
1/1 = 12 (63.1) 1/2 = 7 (36.8) 2/2 = 0 (0.0) Salzmann et al. 2008 [67 ] TLE-HS+/− Caucasian TLE-HS+
TLE-HS+ versus
1/1 = 118 (50.4) controls = NS 1/1 = 45 (52.3) 1/2 = 101 (43.2) 1/2 = 34 (39.5) 2/2 = 15 (6.4) 2/2 = 7 (8.2) TLE-HS− TLE-HS− versus
controls = NS 1/1 = 14 (60.9) 1/2 = 8 (34.8) 2/2 = 1 (4.3) PRNP p.Asn171Ser (CM971239) Walz et al. 2003 [80 ] Refractory Brazilian Seizure-free Seizure-free Initial study TLE-HS+
versus Seizure = Asn/Asn = 70 (82.4) 0.005 Asn/Ser = 15 (17.6) Seizure
Asn/Asn = 6 (46.2) Asn/Ser = 7 (53.8) Cavalleri et al. 2005 [5 ] Refractory Caucasian
NS TLE-HS+ Asn/Asn = 109 (100) Asn/Asn = 360 (99.8) Asn/Ser = 0 (0.0) Asn/Ser = 1 (0.2) Ser/Ser = 0 (0.0) Ser/Ser = 0 (0.0) PRNP p.Met129Val (CM890104) Labate et al. 2007 [81 ] Women, Caucasian
0.021 Initial study nonlesional TLE Met/Met = 64 (39.5) Met/Met = 77 (54.6) Met/Val = 77 (47.5) Met/Val = 54 (38.3) Val/Val = 21 (13.0) Val/Val = 10 (7.1) Wang et al. 2008 [82 ] Women, Chinese
NS nonlesional TLE Met/Met = 146 (97.33) Met/Met = 302 (96.79) Met/Val = 4 (2.67) Met/Val = 10 (3.31) Val/Val = 0 (0.0) Val/Val = 0 (0.0) 5-HTT 5-HTTLPR ins/del → 5′UTR Manna et al. 2007 [83 ] Nonlesional TLE Caucasian
NS S-allele = short variant Initial study L/L = 77 (21.1) L/L = 90 (29.1) L-allele = long variant L/S = 146 (60.6) L/S = 142 (46.0) (rs12720056) S/S = 53 (18.3) S/S = 77 (24.9) Stefulj et al. 2010 [84 ] TLE Caucasian
NS L/L = 42 (41.6) L/L = 60 (35.3) L/S = 45 (44.6) L/S = 93 (54.7) S/S = 14 (13.9) S/S = 17 (10.0) Schenkel et al. 2011 [85 ] TLE Brazilian
NS L/L = 48 (27.4) L/L = 54 (34.8) L/S = 91 (52.0) L/S = 64 (41.3) S/S = 36 (20.6) S/S = 37 (23.9) 5-HTT 17 bp tandem repeat → intron 2 Manna et al. 2007 [83 ] Nonlesional TLE Caucasian
0.0145 9, 10 and 12 repeats Initial study 12/12 = 126 (48.6) 12/12 = 115 (37.2) (rs71360731) 12/10 = 112 (46.2) 12/10 = 136 (44.0) 10/10 = 38 (5.2) 10/10 = 58 (18.8) Kauffman et al. 2009 [86 ] Response to Argentinean Nonresponsive Nonresponsive versus treatment
responsive =0.006 TLE-HS+ 12/12 = 40 (54.0) 12/10 = 23 (31.0) 10/10 = 10 (13.5) 12/9 = 1 (1.5) Responsive
12/12 = 7 (22.6) 12/10 = 21 (67.7) 10/10 = 3 (9.7) 12/9 = 0 (0.0) Stefulj et al. 2010 [84 ] TLE Caucasian
NS 12/12 = 30 (30.9) 12/12 = 64 (39.5) 12/10 = 46 (47.4) 12/10 = 74 (45.7) 10/10 = 21 (21.6) 10/10 = 24 (14.8) Schenkel et al. 2011 [85 ] TLE Brazilian
NS 12/12 = 62 (35.4) 12/12 = 67 (43.2) 12/10 = 81 (46.3) 12/10 = 67 (43.2) 10/10 = 32 (18.3) 10/10 = 21 (13.5) 5-HT1B c.861C>G → synonymous Stefulj et al. 2010 [84 ] TLE Caucasian
0.0642 (rs6296) C/C = 2 (2.0) C/C = 14 (8.2) G/C = 35 (34.7) G/C = 65 (38.2) G/G = 64 (63.4) G/G = 91 (53.5) CALHM1 A>G → 3′UTR
Lv et al. 2011 [87 ] TLE Chinese
0.004 (rs11191692) Initial study A/A = 50 (9.1) A/A = 30 (7.5) A/G = 257 (46.6) A/G = 149 (37.3) G/G = 244 (44.3) G/G = 220 (55.1)
Lv et al. 2011 [87 ] TLE Chinese
0.006 Replication study A/A = 34 (9.4) A/A = 20 (6.8) A/G = 168 (46.7) A/G = 111 (37.0) G/G = 158 (43.9) G/G = 169 (56.2)