Ann Neurol. 2002 Sep;52(3):364-7.

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

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Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

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.

PMID:: 12205652; [PubMed - indexed for MEDLINE]

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Ann Neurol. 2002 Sep ;52(3):364-7.

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