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NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) AND Epilepsy, lateral temporal lobe, autosomal dominant

Significance: Pathogenic
ClinVar: RCV000005770

Variant: NM_005097.4(LGI1):c.695T>C (p.Leu232Pro)

Type: Variant
Allele: NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) 20476
Gene:
Type: single nucleotide variant
Location: Chr10: 93793207 - assembly GRCh38
Chr10: 95552964 - assembly GRCh37
References: dbSNP: 104894167
OMIM: 604619.0009
UniProtKB: O95970#VAR_058546

Condition

Disease: Epilepsy, lateral temporal lobe, autosomal dominant

Citation

    In 3 members of an Algerian family with ADLTE (600512), Chabrol et al. (2007) identified a heterozygous 695T-C transition in exon 7 of the LGI1 gene, resulting in a leu232-to-pro (L232P) substitution in the second EAR domain. In vitro functional expression studies showed that the L232P mutant protein was not secreted into the culture medium, suggesting a loss of function underlies the pathogenesis of ADLTE.
PMID:17296837