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  • Title: LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.
    Author: Gu W, Brodtkorb E, Steinlein OK.
    Journal: Ann Neurol; 2002 Sep; 52(3):364-7. PubMed ID: 12205652.
    Abstract:
    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.
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