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LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
Author(s) -
Gu Wenli,
Brodtkorb Eylert,
Steinlein Ortrud K.
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10280
Subject(s) - epilepsy , temporal lobe , missense mutation , neuroscience , aphasia , epilepsy syndromes , mutation , genetics , biology , gene
Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22‐q24, and recently mutations in the LGI1 gene ( L eucine‐rich gene, G lioma I nactivated) 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.