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NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) AND Epilepsy, lateral temporal lobe, autosomal dominant

Significance: Pathogenic
ClinVar: RCV000005763

Variant: NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala)

Type: Variant
Allele: NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) 20469
Gene:
Type: single nucleotide variant
Location: Chr10: 93797277 - assembly GRCh38
Chr10: 95557034 - assembly GRCh37
References: dbSNP: 28937874
OMIM: 604619.0001
UniProtKB: O95970#VAR_015773

Condition

Disease: Epilepsy, lateral temporal lobe, autosomal dominant

Citations

    In affected members of a family with autosomal dominant partial epilepsy with auditory features (600512), Kalachikov et al. (2002) identified a 1372A-C transversion in exon 8 of the LGI1 gene, resulting in a missense glu383-to-ala (E383A) amino acid substitution in the fourth EAR domain.
PMID:11810107
    By in vitro functional expression studies, Chabrol et al. (2007) demonstrated that the E383A mutant protein was not secreted into the culture medium, suggesting that a loss of function underlies pathogenesis of ADLTE.
PMID:17296837