Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2.

ABSTRACT:

Background

The LGI2 (leucine-rich, glioma inactivated 2) gene, a prime candidate for partial epilepsy with pericentral spikes, belongs to a family encoding secreted, beta-propeller domain proteins with EPTP/EAR epilepsy-associated repeats. In another family member, LGI1 (leucine-rich, glioma inactivated 1) mutations are responsible for autosomal dominant lateral temporal epilepsy (ADLTE). Because a few LGI1 disease mutations described in the literature cause secretion failure, we experimentally analyzed the secretion efficiency and subcellular localization of several LGI1 and LGI2 mutant proteins corresponding to observed non-synonymous single nucleotide polymorphisms (nsSNPs) affecting the signal peptide, the leucine-rich repeats and the EAR propeller.

Results

Mapping of di

SUBMITTER: Limviphuvadh V 

PROVIDER: S-EPMC2949613 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature