Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1

Autosomal dominant lateral temporal epilepsy (ADTLE) is a syndrome characterized by ictal auditory phenomena suggesting a lateral temporal lobe seizure onset and is associated with mutations in the leucine-rich, glioma inactivated 1 (LGI1) gene.1,2 The structure of the LGI1 protein includes, in the N-terminal portion, three leucine-rich repeats (LRR). The function of LGI1 and the mechanisms underlying epilepsy in patients with LGI1 mutations are not established. However, LGI1 is involved in the control of survival of neuroblastoma cell lines.3 This feature and the structural homology between LGI1 and other LRR proteins essential for the development of the CNS3 make it conceivable that LGI1 mutations could imply some structural abnormalities of the lateral temporal lobe as the substratum underlying partial epilepsy in ADTLE. Neuropathologic data are lacking and conventional MRI studies failed to show consistent findings in ADTLE. Voxel-based analyses enable detection of subtle regional differences in MR images