z-logo
Premium
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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here