Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044999
rs797044999
LGI1
0.020 GeneticVariation BEFREE Strikingly, the missense mutations S473L and R474Q of LGI1 identified in ADLTE prevent its association with ADAM22 and enrichment at the AIS. 30598502

2019
dbSNP: rs797044999
rs797044999
LGI1
0.020 GeneticVariation BEFREE Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c.1418C>T, p.Ser473Leu). 29034879

2017
dbSNP: rs1064794249
rs1064794249
LGI1
0.010 GeneticVariation BEFREE Strikingly, the missense mutations S473L and R474Q of LGI1 identified in ADLTE prevent its association with ADAM22 and enrichment at the AIS. 30598502

2019
dbSNP: rs778672052
rs778672052
ADAM22 ; LOC105375386
0.010 GeneticVariation BEFREE Strikingly, the missense mutations S473L and R474Q of LGI1 identified in ADLTE prevent its association with ADAM22 and enrichment at the AIS. 30598502

2019
dbSNP: rs104894166
rs104894166
LGI1 ; LOC101927013
0.010 GeneticVariation BEFREE The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short-lasting sensory aphasia and auditory symptoms. 12205652

2002