LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

ABSTRACT:

Objective

S: Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features (ADPEAF), a form of familial temporal lobe epilepsy with auditory ictal manifestations. The authors aimed to determine what proportion of ADPEAF families carries a mutation, to estimate the penetrance of identified mutations, and to identify clinical features that distinguish families with and without mutations.

Methods

The authors sequenced LGI1 in 10 newly described ADPEAF families and analyzed clinical features in these families and others with mutations reported previously.

Results

Three of the families had missense mutations in LGI1 (C42R, I298T, and A110D). Penetrance was 54% in eight families with LGI1 mutations the authors have identified so far (five reported previ

SUBMITTER: Ottman R 

PROVIDER: S-EPMC1361770 | biostudies-literature | 2004 Apr

REPOSITORIES: biostudies-literature