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Article

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

14 Jul 2002

Abstract excerpt

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...

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PMID: 12205652
DOI: 10.1002/ana.10280

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