penetrance and suggesting that ADLTE is genetically heterogeneous.3-5 The LGI1 gene is mainly expressed in brain tissues and shows no homology with known ion channel genes
[jamanetwork.com]
Two other unaffected subjects did carry the mutation, consistent with reduced penetrance: II:1, aged 76 years, and IV:5, aged 17 years at the time of study.
[ncbi.nlm.nih.gov]
[…] leucine-rich, glioma-inactivated 1 (LGI1) gene (GenBank 9211), also named Epitempin, are found in about 50% of the families, compatible with autosomal dominant inheritance with reduced
[jamanetwork.com]