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Article

Novel <i>LGI1</i> mutation in a family with autosomal dominant partial epilepsy with auditory features

27 May 2003

Abstract excerpt

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare idiopathic epilepsy syndrome caused by mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene. The authors report that molecular genetic studies in seven affected family members identified a novel F318C substitution that alters a highly conserved residue in a predicted repeat domain of unknown function. This report suggests...

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Identifiers

PMID: 12771268
DOI: 10.1212/01.wnl.0000063324.39980.4a

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