Autosomal Dominant Lateral Temporal Lobe Research Articles

No evidence for a seriously increased malignancy risk in LGI1-caused epilepsy

The Leucine-rich Glioma Inactivated-1 ( LGI1) gene is supposed to be a tumor suppressor gene involved in glial tumors. Mutations in this gene were recently found to cause autosomal dominant lateral temporal lobe epilepsy (ADLTE). We have now analysed the comorbidity in a large Norwegian ADLTE family. No evidence was found that LGI1 is a high-penetrance tumor suppressor gene associated with a serious risk for malignancies in ADLTE families.

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22-q24, and recently mutations in the LGI1 gene (Leucine-rich gene, Glioma Inactivated) have been found in some autosomal dominant lateral temporal lobe epilepsy families. We have now identified a missense mutation affecting a conserved cysteine residue in the extracellular region of the LGI1 protein. The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short-lasting sensory aphasia and auditory symptoms.