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Gene | Genomic variation | Protein alteration | Accession number | Type of TLE | Reference |
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LGI1 | c.1639insA | Frameshift, protein truncation | CI020606 | ADLTE/ADPEAF | Kalachikov et al. 2002 [11] |
LGI1 | c.611delC (835delC) | Frameshift, protein truncation | CD020573 | ADLTE/ADPEAF | Kalachikov et al. 2002 [11] |
LGI1 | c.136-3C>A (359-3C>A) | Intron retention, protein truncation | CM022035 | ADLTE/ADPEAF | Kalachikov et al. 2002 [11] |
LGI1 | c.1050-1051delCA | Frameshift, protein truncation | CD020574 | ADLTE/ADPEAF | Kalachikov et al. 2002 [11] |
LGI1 | c.1148A>C | p.Glu383Ala | rs28937874 | ADLTE/ADPEAF | Kalachikov et al. 2002 [11] |
LGI1 | c.758delC | Frameshift, protein truncation | CD021020 | ADLTE/ADPEAF | Morante-Redolat et al. 2002 [16] |
LGI1 | c.1420C>T | Premature stop codon, protein truncation | CM020950 | ADLTE/ADPEAF | Morante-Redolat et al. 2002 [16] Bisulli et al. 2004 [13] |
LGI1 | c.136T>C | p.Cys46Arg | rs104894166 | ADLTE/ADPEAF | Gu et al. 2002 [17] |
LGI1 | c.953T>G | p.Phe318Cys | rs28939075 | ADLTE/ADPEAF | Fertig et al. 2003 [18] |
LGI1 | c.598T>C | p.Cys200Arg | CM034239 | ADLTE/ADPEAF | Michelucci et al. 2003 [19] |
LGI1 | c.1295T>A | p.Val432Glu | CM034240 | ADLTE/ADPEAF | Michelucci et al. 2003 [19] |
LGI1 | Unknown | p.Leu26Arg | Unknown | ADLTE/ADPEAF | Pizzuti et al. 2003 [20] |
LGI1 | c.839-2A>C | Intron retention, protein truncation | Unknown | ADLTE/ADPEAF | Kobayashi et al. 2003 [21] |
LGI1 | c.124T>G | p.Cys42Gly | CM041029 | ADLTE/ADPEAF | Berkovic et al. 2004 [22] |
LGI1 | c.1418C>T | p.Ser473Leu | CM041033 | ADLTE/ADPEAF | Berkovic et al. 2004 [22] Kawamata et al. 2010 [23] |
LGI1 | c.124T>C (348T>C) | p.Cys42Arg | CM041030 | ADLTE/ADPEAF | Ottman et al. 2004 [24] |
LGI1 | c.893T>C | p.Ile298Thr | CM041032 | ADLTE/ADPEAF | Ottman et al. 2004 [24] |
LGI1 | c.329C>A | p.Ala110Asp | CD044789 | ADLTE/ADPEAF | Ottman et al. 2004 [24] |
LGI1 | c.329delC | Frameshift, protein truncation | CD044789 | ADLTE/ADPEAF | Hedera et al. 2004 [25] |
LGI1 | c.435C>G | p.Ser145Arg | CM044660 | ADLTE/ADPEAF | Hedera et al. 2004 [25] |
LGI1 | c.461T>C | p.Leu154Pro | CM055408 | ADLTE/ADPEAF | Pisano et al. 2005 [26] |
LGI1 | c.406C>T | p.Arg136Trp | rs119488099 | ADLTE/ADPEAF | Michelucci et al. 2007 [14] |
LGI1 | c.431+1G>A | Deletion, protein truncation | Unknown | ADLTE/ADPEAF | Chabrol et al. 2007 [27] |
LGI1 | c.695T>C | p.Leu232Pro | rs104894167 | ADLTE/ADPEAF | Chabrol et al. 2007 [27] |
LGI1 | c.365T>A | p.Ile122Lys | rs119488100 | ADLTE/ADPEAF | Striano et al. 2008 [28] |
LGI1 | c.367G>A | p.Glu123Lys | Unknown | ADLTE/ADPEAF |
Bonaventura et al. 2009 [29] |
LGI1 | c.1421G>A | p.Arg474Glu | CM020950 | ADLTE/ADPEAF | Kawamata et al. 2010 [23] |
LGI1 | c.1219C>T | p.Arg407Cys | Unknown | ADLTE/ADPEAF | Striano et al. 2011 [30] |
SCN1A | c.3809A>C | p.Lys1270Thr | rs121918626 | TLE + GEFS+ | Abou-Khalil et al. 2001 [31] |
SCN1B | c.363C>G | p.Cys121Trp | rs104894718 | TLE + GEFS+ | Scheffer et al. 2007 [32] |
SCN1B | Unknown | p.Arg85Cys | CM071081 | TLE + GEFS+ | Scheffer et al. 2007 [32] |
SCN1B | Unknown | p.Arg85His | CM071082 | TLE + GEFS+ | Scheffer et al. 2007 [32] |
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