Mutations of leucine-rich, glioma inactivated 1 (LGI1) gene are found in about half of the families with autosomal dominant lateral temporal epilepsy (ADLTE). More recently a LGI1 heterozygous microdeletion was found in a single ADLTE family, suggesting that submicroscopic chromosomal abnormalities should be investigated in cases negative for LGI1 mutations. This study examines whether microdeletions and duplications of the LG1 gene occurred in eight ADLTE families and 20 sporadic patients that were negative for LGI1 mutations. Multiplex ligation-dependent probe amplification (MLPA) was applied to detect potential deletions and duplications of LGI1 gene. In all patients, MLPA analysis did not reveal any pathogenic changes in the LGI1 gene. Chromosomal rearrangements involving the LGI1 gene were not identified in our series of familial or sporadic LTE. These results further illustrate the considerable genetic heterogeneity for ADLTE, despite the relatively homogeneous clinical picture. There are as yet undiscovered mechanisms underlying ADLTE.
Keywords: Autosomal dominant lateral temporal epilepsy; Gene rearrangement; LGI1 gene; Multiplex ligation-dependent probe amplification; Mutation analysis.
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