Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2
Bio Chemistry Research Journal : Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2 This similarity of experimental mislocalization phenotypes for mutations at homologous positions of LGI2 and the established epilepsy gene LGI1 suggests that both genes share a potentially common molecular pathogenesis mechanism that might be the reason for genotypically distinct but phenotypically related forms of epilepsy. In our previous work, arguments based on protein sequence analysis and patient-specific chromosomal deletions are provided for LGI2 as the prime candidate gene for partial epilepsy with pericentral spikes (PEPS) [14]. Both PEPS and ADLTE are temporal lobe epilepsies and LGI1 and LGI2 are closely related paralogues that share the same functional domains.
Download Journal pdf:
http://www.biomedcentral.com/content/pdf/1471-2091-11-39.pdf
If you enjoyed this post, please consider to leave a comment or subscribe to the feed and get future articles delivered to your feed reader.
Comments
No comments yet.
Leave a comment