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. 2003 May 27;60(10):1687-90.
doi: 10.1212/01.wnl.0000063324.39980.4a.

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

Evan Fertig  1 , Anne Lincoln, Andrea Martinuzzi, Richard H Mattson, Fuki M Hisama
Affiliations

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

Evan Fertig et al. Neurology. .

Abstract

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 that this domain may participate in the development of the ADPEAF phenotype.

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