LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
Fanciulli M et al. – This is the first microdeletion affecting LGI1 identified in autosomal dominant lateral temporal epilepsy (ADLTE). Families with ADLTE in which no point mutations are revealed by direct exon sequencing should be screened for possible genomic deletion mutations by copy number variations (CNVs) analysis or other appropriate methods. Overall, CNV analysis of multiplex families may be useful for identifying microdeletions in novel disease genes.